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1.
World J Transplant ; 14(1): 89978, 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38576764

RESUMO

Viral infections have been considered as a major cause of morbidity and mortality after kidney transplantation in pediatric cohort. Children are at high risk of acquiring virus-related complications due to immunological immaturity and the enhanced alloreactivity risk that led to maintenance of high immunosuppressive regimes. Hence, prevention, early detection, and prompt treatment of such infe ctions are of paramount importance. Among all viral infections, herpes viruses (herpes simplex virus, varicella zoster virus, Epstein-Barr virus, cytomegalovirus), hepatitis B and C viruses, BK polyomavirus, and respiratory viruses (respiratory syncytial virus, parainfluenza virus, influenza virus and adenovirus) are common in kidney transplant recipients. These viruses can cause systemic disease or allograft dysfunction affecting the clinical outcome. Recent advances in tech nology and antiviral therapy have improved management strategies in screening, monitoring, adoption of prophylactic or preemptive therapy and precise trea tment in the immunocompromised host, with significant impact on the outcome. This review discusses the etiology, screening and monitoring, diagnosis, pre vention, and treatment of common viral infections in pediatric renal transplant recipients.

2.
Turk J Pediatr ; 65(3): 531-535, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37395972

RESUMO

BACKGROUND: Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an autosomal dominant disorder. Since SMA-LED affects lower motor neurons, the disease is characterized by weakness and atrophy of lower limb muscles. We present a familial case series of SMA-LED with upper motor neuron signs associated with a rare variant in DYNC1H1. CASE: The index case was referred to Pediatric Neurology at the age of two and half years, due to delayed mobility. The child was diagnosed with congenital vertical talus at birth, which was managed with serial bilateral casting and surgery. The delayed mobility was initially attributed to lower limb weakness secondary to prolonged periods of immobilization from casting of his lower limbs. He had a striking waddling gait and proximal muscle weakness on neurological assessment. He had lower motor neuron signs predominantly in his lower limbs that were in keeping with SMA-LED. Surprisingly, he also demonstrated a brisk crossed adductor response that was not in keeping with an isolated primary neuro-muscular disorder and suggested a mixed upper and lower motor neuron pathology. The inherited neuropathy gene panel revealed a heterozygous sequence change in the DYNC1H1 gene which was present in all affected family members. CONCLUSIONS: We present the first report of a familial case series of SMA-LED with upper motor neuron signs associated with an extremely rare variant in DYNC1H1: c.1808A > T (p.Glu603Val). As per the American College of Medical Genetics and Genomics (ACMG) guidelines for variant classification, we would recommend that this variant be reclassified as `Likely Pathogenic` due to matching 1 moderate (PM1-PM6) and ≥4 supporting (PP1-PP5) criteria in the reported case series.


Assuntos
Dineínas do Citoplasma , Atrofia Muscular Espinal , Humanos , Masculino , Dineínas do Citoplasma/genética , Extremidade Inferior , Neurônios Motores/patologia , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Fenótipo , Pré-Escolar
3.
J Med Case Rep ; 17(1): 10, 2023 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-36627702

RESUMO

BACKGROUND: Kawasaki disease is an acute febrile condition in children. It affects mainly children under 5 years old, and is known to cause coronary artery abnormalities if treatment is delayed. The diagnosis rests mainly on clinical criteria. However, it is also known that some infants do not have diagnostic criteria sufficient enough for the diagnosis of Kawasaki disease. Further, children may rarely present with unusual features, and this entity is recognized as "Atypical Kawasaki disease." CASE PRESENTATION: We present the case of a 9-month-old Tamil boy who presented with sterile gross hematuria in association with prolonged fever, lymphadenopathy, and generalized maculopapular rash. He had high inflammatory markers and echocardiogram disclosed left coronary artery dilatation. The diagnosis of incomplete Kawasaki disease was confirmed based on clinical grounds supported by investigations and exclusion of differential diagnosis. The child showed a good response to intravenous immunoglobulin and aspirin. CONCLUSION: Kawasaki disease is one of the important differential diagnoses of protracted fever of unknown origin in very young children. Since delayed treatment is associated with a high risk of complications, atypical Kawasaki disease needs to be suspected in children presenting with unusual features such as macroscopic hematuria that occurs in association with unexplained prolonged fever.


Assuntos
Síndrome de Linfonodos Mucocutâneos , Masculino , Criança , Humanos , Lactente , Pré-Escolar , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Índia , Hematúria/etiologia , Febre/etiologia , Febre/tratamento farmacológico , Aspirina/uso terapêutico , Imunoglobulinas Intravenosas/uso terapêutico
4.
Arch Dis Child Educ Pract Ed ; 108(1): 17-21, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-34799417

RESUMO

Torticollis refers to a state in which the neck is twisted due to excessive contraction or shortening of the muscles on one side. Congenital muscular torticollis, which is more common than acquired torticollis, has an incidence of 0.3%-1.9% among all live births. The clinical approach to torticollis depends on the age at presentation, duration of torticollis and presenting symptoms. The underlying aetiology for torticollis varies with the age of the child. Torticollis can be a presenting feature for life-threatening conditions and thus requires careful evaluation.


Assuntos
Torcicolo , Criança , Humanos , Encaminhamento e Consulta , Torcicolo/diagnóstico
5.
Arch Dis Child Educ Pract Ed ; 108(3): 181-183, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-34880073

RESUMO

Paracetamol is one of the most frequent reasons for poisonings across the UK with an estimated 90,000 patients and 150 deaths annually. International normalised ratio (INR) may be elevated due to hepatocellular damage and is frequently used to monitor progress on N-acetyl cysteine. N-acetyl cysteine is associated with reduced activity of vitamin K dependent clotting factors leading to a benign elevation of INR. In asymptomatic children with normal aspartate transaminase/alanine transaminase, isolated borderline elevation of INR following paracetamol overdose should be reviewed for possible N-acetyl cysteine induced elevation of INR. Due to these factors, in those with borderline persistent elevation of INR, N-acetyl cysteine can be safety stopped if INR is falling on two or more consecutive tests and is <3.0.


Assuntos
Acetaminofen , Hepatopatias , Humanos , Criança , Coeficiente Internacional Normatizado , Acetilcisteína/uso terapêutico , Vitamina K/uso terapêutico
6.
J Med Case Rep ; 16(1): 376, 2022 Oct 19.
Artigo em Inglês | MEDLINE | ID: mdl-36258204

RESUMO

BACKGROUND: Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and presenting with the concurrence of bone fragility and congenital contractures of large joints. The disease usually progresses relentlessly to result in recurrent fractures, short stature, severe kyphoscoliosis, and susceptibility to recurrent respiratory tract infections. CASE PRESENTATION: The index child was a male newborn to healthy, nonconsanguineous, Sinhalese parents. The child had multiple contractures involving all large joints with pterigium formation in addition to congenital fractures involving left humerus and ulna at birth. The phenotypic features in this child were highly suggestive of Bruck syndrome. Genetic counseling was offered to the parents, although specific genetic testing could not be undertaken due to lack of resources. Bone and skin biopsy were not performed since only palliative care was possible. Over the course, he developed recurrent severe chest infections due to poor muscle tone, weak cough reflex, and pooling of secretions. Unfortunately, he succumbed at the age of 7 months following severe pneumonia. CONCLUSION: The association of arthrogryposis with osteogenesis imperfecta is extremely rare and known as Bruck syndrome. Early diagnosis during the antenatal period is helpful in genetic counseling, assessment of severity, and exploration of therapeutic options.


Assuntos
Artrogripose , Contratura , Osteogênese Imperfeita , Criança , Recém-Nascido , Masculino , Humanos , Feminino , Gravidez , Lactente , Artrogripose/complicações , Artrogripose/diagnóstico , Artrogripose/genética , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/diagnóstico , Osso e Ossos , Família
7.
J Med Case Rep ; 16(1): 219, 2022 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-35659758

RESUMO

BACKGROUND: Dengue fever is one of the most common tropical diseases, with high prevalence in many tropical countries including Sri Lanka. Dengue infection can present from subclinical infection to dengue shock syndrome. Further, the disease also shows a variety of atypical presentations and has been reported to mimic a number of causes of acute abdomen. CASE PRESENTATION: The authors report two children (a 6-year-old Tamil girl and an 8-year-old Muslim girl) who were diagnosed to have acute appendicitis during the early recovery phase of dengue hemorrhagic fever (DHF) and late recovery period of dengue hemorrhagic fever with platelet count of 92 × 103/cumm and 102 × 103/cumm, respectively. Both children were investigated with abdomen ultrasound as they developed severe abdominal pain and tenderness on palpation during the recovery phase, which was felt to be very unusual. Acute appendicitis was diagnosed in one child, while the other child had a ruptured appendicular abscess. Both children were treated with laparoscopic appendectomy and a 7-day course of intravenous antibiotics. Both children were reviewed in 1 month following treatment and had complete recovery. CONCLUSION: Although precise pathophysiology and associations of the surgical abdomen with dengue fever remain to be elucidated, there are known factors in dengue fever that can potentially lead to secondary bacterial infections and surgical abdomen. Awareness and increased suspicion by the clinician are paramount to detect such complications early, especially in children who demonstrate unusual clinical features during various stages of dengue infection.


Assuntos
Abdome Agudo , Apendicite , Coinfecção , Dengue , Dengue Grave , Doença Aguda , Apendicectomia , Apendicite/complicações , Apendicite/cirurgia , Criança , Coinfecção/complicações , Dengue/complicações , Dengue/diagnóstico , Feminino , Humanos , Índia , Dengue Grave/complicações , Dengue Grave/diagnóstico
8.
Cureus ; 14(2): e21934, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35273875

RESUMO

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare inborn error of metabolism that is characterized by impaired metabolism of ketones and isoleucine. The condition is inherited as an autosomal recessive disorder. Herein, we present a child with T2 deficiency from Mahaoya, Eastern Province, Sri Lanka. This three-month-old child presented with fever, difficulty in breathing, and irritability for one day and was subsequently found to have severe metabolic acidosis with positive ketone bodies in urine. His blood glucose was normal. Metabolic screening showed increased urinary excretion of 2-methyl-3-hydroxybutyrate (2M3HB), 2-methyl acetoacetate (2MAA), and tiglylglycine (TIG). He was diagnosed to have beta-ketothiolase deficiency based on biochemical studies. Genetic studies were not done due to financial constraints in the family. Severe metabolic acidosis was successfully managed with intravenous sodium bicarbonate infusion. T2 deficiency would be a differential diagnosis in children with unsolved ketoacidosis. Children with T2 deficiency have a better outcome if detected and managed early. The reported patient had age-appropriate growth and development at the latest follow-up at three years eight months while he has been on oral carnitine and bicarbonate.

9.
J Med Case Rep ; 16(1): 123, 2022 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-35346359

RESUMO

BACKGROUND: Dengue is a mosquito-borne viral infection that typically occurs in tropical and subtropical countries. The clinical manifestations of dengue infection range from an asymptomatic subclinical course to severe dengue shock syndrome. Besides, dengue can affect any organ in the body and can present with atypical manifestations. CASE PRESENTATION: We report a 6-year-old previously healthy Tamil child who had dengue complicated with multiorgan involvement. She initially presented with high fever, headache, body aches for 5 days, blood and mucus diarrhea, hematuria, and right knee joint swelling for 2 days. Dengue NS1 antigen was positive on day 2 of febrile illness. She was managed symptomatically in the local hospital for 3 days and transferred to the tertiary care hospital for further management. She was eventually diagnosed as having dengue hemorrhagic fever complicated with multiorgan involvement including acute liver failure, pancreatic involvement, coagulopathy, arthritis, acute kidney injury, and multiple intracranial hemorrhages. The constellation of disease manifestations was identified as expanded dengue syndrome. She was managed with fresh blood, platelet, and cryoprecipitate transfusions and intravenous antibiotics in addition to renal and liver support in the intensive care unit. On day 14 of illness, she deteriorated while on the ventilator and died due to multiple intracranial hemorrhages. CONCLUSION: The reported child with dengue hemorrhagic fever developed several unusual presentations such as acute liver and renal failure, disseminated intravascular coagulopathy, pancreatic involvement, and multiple intracranial hemorrhages, which form part of expanded dengue syndrome. In the seriously unwell child, it is important to look for unusual complications actively to improve outcomes.


Assuntos
Injúria Renal Aguda , Dengue , Falência Hepática Aguda , Injúria Renal Aguda/complicações , Animais , Criança , Dengue/complicações , Dengue/diagnóstico , Feminino , Humanos , Índia , Hemorragias Intracranianas/complicações , Rim , Falência Hepática Aguda/diagnóstico , Falência Hepática Aguda/etiologia
10.
Frontline Gastroenterol ; 13(2): 175-177, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35300473

RESUMO

The lipodystrophies are an extremely rare group of metabolic conditions which are categorised based on their pathogenesis and phenotype. While primarily known for the striking loss of subcutaneous adipose tissue which they induce, they may also be associated with significant liver injury. In most cases, this results from the secondary deposition of lipid within hepatic parenchyma and is seen predominantly in generalised lipodystrophy. More rarely, patients may develop autoimmune hepatitis. We report a rare case of a 17-month-old boy who developed features of acquired partial lipodystrophy in association with anti-LKM1-positive autoimmune hepatitis following initial presentation with a Henoch-Schönlein purpura-like illness. We describe his challenging path to diagnosis and discuss his ongoing management in an effort to further our understanding of this rare but significant association. This report highlights the need for close clinical observation and a high index of suspicion for recognising early features of lipodystrophy.

11.
Cureus ; 13(7): e16309, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34405068

RESUMO

Psychoactive substance use during adolescence is an emerging challenge to the public health system due to the potential negative impact on the emotional, cognitive, social, physical and academic outcomes of adolescents. An increase in autonomy during adolescence, peer influence and willingness to experiment, lead to taking high-risk decisions subsequently prompting towards substance abuse and alcohol use. Substance use is heterogeneous among adolescents, which differs with availability, perceptions of use and specific drug usage. In adolescents' substance abuse, beyond emergency care, brief counselling with psychosocial assessment and follow up are recommended for successful management. The article reviews the common substances used by adolescents, types of presentations, clinical evaluation of patients and their background, laboratory testing, emergency management and follow up for long-term management.

12.
J Trop Med ; 2021: 8842799, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34122560

RESUMO

Pathogenesis of dengue haemorrhagic fever is not fully understood, but it is thought that there is antibody enhancement during the secondary infection, which causes severe dengue haemorrhagic fever (DHF). Therefore, patients who have DHF should have a documented history of symptomatic dengue infection in the past. A retrospective descriptive-analytical study was conducted at the University Paediatric Unit at Lady Ridgeway Hospital for Children, Colombo, Sri Lanka. All children who had fulfilled the criteria for DHF admitted to the unit from April 2018 to September 2018 were recruited into the study. Relevant data were collected from bed head tickets. One hundred and eighty-four children were included in the final analysis. Thirty-three (17.9%) had a past history of documented symptomatic dengue infection, while 82.1% did not have a documented dengue infection. Twelve patients had dengue shock syndrome, and none of them had previously documented symptomatic dengue fever. Dextran was used in 96 patients in the critical phase. Twelve (42%) patients with past documented symptomatic dengue fever needed dextran while 84 (54.9%) patients without a documented past history of dengue fever needed dextran. In our clinical observation, we noticed that children with DHF mostly did not have a documented symptomatic prior dengue infection, while those with a documented symptomatic prior infection had a milder subsequent illness. In fact, the majority (82.1%) of patients with DHF did not have documented previous symptomatic dengue infection. It was also observed that the clinical course of subsequent dengue infection was less severe in patients with previously documented symptomatic dengue fever. This finding should be further evaluated in a larger scale study minimizing the all-confounding factors. This fact is more important in selecting recipients for vaccines against the dengue virus, which are supposed to produce immunity against the virus without causing the severe disease.

13.
Cureus ; 13(5): e14913, 2021 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-34123613

RESUMO

Childhood pneumococcal infection is a growing concern among paediatricians especially, in countries where there is no routine vaccination program against Streptococcal pneumoniae. The disease is associated with significant morbidity and mortality in young children particularly those who are under the age of two years. Its main virulent factors include polysaccharide capsule, autolysin, pneumolysin, choline-binding Protein A, the higher chance for genetic transformation, and the presence of pilli that facilitate enhanced binding of bacteria to host cellular surfaces. More severe and invasive pneumococcal infections are seen in children with immunodeficiencies, hypofunctional spleen, malnutrition, chronic lung disease and nephrotic syndrome. The disease spectrum includes a range of manifestations from trivial upper respiratory tract infections to severe invasive pneumococcal disease (PD). The basis of diagnosis is the isolation of bacteria in the culture of body fluids including blood. Antibiotics are best guided by sensitivity patterns and the emergence of resistance is a growing concern.

14.
Cureus ; 13(5): e14848, 2021 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-34104592

RESUMO

Introduction: Chronic urticaria is one of the growing problems worldwide and the prevalence is increasing. Around 2% of children have been shown to be affected with chronic urticaria. Objectives: To evaluate demographic, clinical and aetiological factors related to chronic urticaria in children and to assess investigations and treatment. Method: A retrospective study was done from January 2018 to December 2019 on 40 children aged 1-14 years who presented with chronic urticaria to the paediatric clinic, University Paediatric Unit, Batticaloa Teaching Hospital. Detailed information including demographic factors, duration of illness, main reasons for clinic attendance, treatment received from the out-patient department, caregiver reported allergens, family history of atopy and complications such as secondary bacterial infection were retrieved from clinic-based records. Information regarding laboratory investigations was also retrieved. Data were analysed using SPSS version 19.0 (IBM Corp., Armonk, NY). Results: Forty children were available for the analysis. The most common age category was four to eight years and 25 (62.5%) were females. Seventy percent of children had urticaria for one or more years. Thirty-six (90%) children had a family history of allergies such as allergic rhinitis, eczema, food allergies, medication allergies and bronchial asthma. The common precipitating factors were foods in 12 (30%) cases and insect bites in 10 (25%) cases. The main reasons for seeking medical advice were severe itchiness in 40 (100%) and sleep disturbances in 24 (60%). Only a limited number of investigations had been performed and they included white cell counts (differential eosinophil counts) and thyroid functions. Almost all had normal thyroid functions whilst 45% had eosinophilia. Conclusions: The majority of children with chronic urticaria had symptoms for over the one-year duration and reported a family history of allergy. All children reported severe itchiness as the main symptom and sleep was disturbed in the majority. The common precipitating factors were food and insect bites.

15.
BMJ Case Rep ; 14(6)2021 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-34099442

RESUMO

Chronic fatigue syndrome (CFS) is often preceded by a viral illness and has recurrent 'flulike' symptoms which include a wide spectrum of musculoskeletal and neurological clinical features. The condition is also known as myalgic encephalomyelitis and systemic exertional intolerance syndrome. CFS has been reported following dengue among adult patients. We report the case of an 11-year-old boy who developed CFS following recovery of dengue haemorrhagic fever (DHF). The reported child was initially managed as for DHF and was clinically asymptomatic on post-discharge day 3. He was re-admitted after 3 weeks with severe joint pains, myalgia and unbearable headache. As his symptoms persisted, he was investigated in-depth. All investigations were normal except mild elevation of liver functions. The diagnosis of CFS secondary to DHF was made by exclusion of differential diagnosis. At 1-year follow-up, patient continues to have symptoms after treatment with physiotherapy and nutrition counselling.


Assuntos
Síndrome de Fadiga Crônica , Adolescente , Adulto , Assistência ao Convalescente , Criança , Diagnóstico Diferencial , Síndrome de Fadiga Crônica/diagnóstico , Síndrome de Fadiga Crônica/etiologia , Síndrome de Fadiga Crônica/terapia , Humanos , Masculino , Alta do Paciente , Modalidades de Fisioterapia
16.
Cureus ; 13(4): e14416, 2021 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-33987065

RESUMO

Background Cutaneous larva migrans (CLM) is a neglected parasitic skin disease caused by hookworm larvae such as Ancylostoma braziliense and Ancylostoma caninum. It is more common in tropical and subtropical countries. Evidence regarding clinical profiles, risk factors and outcomes of children with CLM in the Eastern province of Sri Lanka is scarce. Aim The aim of this study was to evaluate demographic profile, risk factors, clinical manifestations and outcomes associated with CLM in children who presented to paediatric and dermatological clinics of the Teaching Hospital, Batticaloa, Sri Lanka.  Method A retrospective study was conducted over three years from January 2017 to December 2019 among children who presented with CLM infection to paediatric and dermatological clinics of the Teaching Hospital, Batticaloa, Sri Lanka. Twenty-eight children who were aged between 1 and 14 years were recruited for the study. Detailed information including demographic factors such as age, sex, residence and mother's education, risk factors for infection, main reason for clinic visit, duration of illness, site of lesions, number of lesions, treatment received from out-patients department and/or general practitioner, duration of treatment, associated secondary bacterial infection, family history of similar infections and laboratory investigations were extracted from clinical records. Data were analyzed using SPSS version 19.0 (IBM Corp., Armonk, NY). Results Among 28 children recruited for this study, 19 (67.9%) were male children and 9 (32.1) were female children. The majority of children were below 6 years (n=25, 88.3%). Twenty-six (92.9%) children had residence in rural areas and also belonged to low socioeconomic class. Most cases were detected in Valaichenai (32.1%) and Kattankudy (21.4%) 'Medical Officer of Health' (MOH) regions. The majority of mothers were educated only up to ordinary level or below (n=19, 67.8%). All patients had pets either dogs or cats at home and no pets had been dewormed. Almost 92.9% of children acquired disease whilst playing on the infected soil The main reason for clinic visit had been itchiness and this presentation accounted for 60.7% (n=17). Skin infection accounted for 25% of presenting problems. Majority of them presented late to the clinic with the lesions of more than three weeks of duration (n=17, 60.7%). Single lesion was noted in the majority (n=27, 96.4%) except one child who had three lesions. Buttock lesions were observed in 35.7%, feet in 25%, and 10.7% in legs. Investigations revealed eosinophilia in 50% (n=14) of patients and neutrophil leukocytosis was seen in five patients (17.9%). All patients received treatment either from the general practitioner or outpatient department for variable duration without success before attending the specialist clinic. Fifty percent of patients needed treatment with Albendazole and antihistamine for more than three weeks to achieve complete cure. It was also observed that overall occurrence had been declining over the past three years. Conclusion CLM is a common and unreported disease in Eastern province, Sri Lanka. The majority of children presented from low socio-economic backgrounds. The common risk factors were the presence of dewormed pets at home and contamination with infected soil. The majority of children had a single lesion on presentation. Fifty percent of children needed more than three weeks of treatment to achieve a good response.

17.
Cureus ; 13(3): e13963, 2021 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-33880297

RESUMO

Pediatric multiple sclerosis (MS) is a rare demyelinating disease of the brain, spinal cord, and optic nerve caused by immune modulators mediating against the neuronal axons of the central nervous system. MS is usually characterized by a series of neurological events, without any features of encephalopathy, separated in time and space. The complications arise from the permanent degeneration of the nerves. This condition can be diagnosed based on International Pediatric Multiple Sclerosis Study Group diagnostic criteria, and there is no definitive treatment for MS. We report the case of a male child who was diagnosed with MS at the age of six years when he presented with right hemiparesis and visual impairment. Subsequently, he had multiple relapses with varied neurological presentations, and each relapse was treated with methylprednisolone.

18.
J Med Case Rep ; 15(1): 110, 2021 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-33658072

RESUMO

BACKGROUND: Aplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown. CASE PRESENTATION: A 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team. CONCLUSIONS: Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.


Assuntos
Displasia Ectodérmica , Criança , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Displasia Ectodérmica/terapia , Feminino , Feto , Humanos , Índia , Recém-Nascido , Gravidez , Pele , Gêmeos
19.
Cureus ; 13(2): e13306, 2021 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-33732561

RESUMO

Background Sucking habits are common among children, especially in early childhood. There is, however, controversy about its prevalence probably due to under-reporting. The objective of this study is to analyze the demographic factors, reasons for clinic attendance, and treatment options chosen by parents and health care providers to control digit sucking. Material and methods A retrospective cross-sectional study was conducted including 82 children presented to the paediatric clinic, Teaching Hospital, Batticaloa, with digit sucking over a period of three years from November 2017 to October 2020. The data was analyzed using SPSS version 19.0 (IBM Corp., Armonk, NY, USA). Results Eighty-two children were enrolled in this study. The majority (n=29, 35.4%) of them presented between seven months to two years, and very few (n=3, 3.6%) presented after five years. Female children outnumbered males (50: 32). Only 24 (29.3%) mothers had been working and away from home during the daytime whilst the rest were housewives and were available to their children most of the time of the day. About 70 (85.4%) children had been given exclusive breastfeeding while the rest had either formula alone or formula with breastfeeding during the first six months of their age. Around 62 (75.6%) children had used their right hand for sucking. Sixty-six children (80.5%) had been using the thumb. Most children (n=56, 68.3%) were sucking since birth. The most common reason (n=68, 82.9%) for clinic attendance was that parents were scared about the future occurrence of mal-alignment or malocclusion of teeth. Thirty-one parents (37.8%) did nothing to stop digit sucking while 25 (30.5%) applied bitter oil and the majority tried pacifier without success. All children were referred to the dental surgeon for further management of digit sucking and amongst them, 78 children (95.1%) attended the appointment. All 78 children had been reassured that the habit eventually disappears before permanent teeth will appear and explained that digit fixing therapy would be offered for persisting habitual digit sucking. Four children did not visit the dental department.  Conclusions The majority of children presented to the clinic were below three years and females outnumbered males in all age groups. A greater number of children had been using their right hand and thumb. Most of them had the habit of sucking since birth and most of the parents anticipated mal-alignment of teeth due to consequences of sucking. None of them succeeded in stopping the habit of digital sucking with various remedies performed at home by their parents.

20.
BMJ Case Rep ; 14(3)2021 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-33727286

RESUMO

Dengue fever is one of the most common neglected tropical diseases with an increasing trend seen in Sri Lanka and many other tropical countries. A number of unusual presentations and complications of dengue fever have been reported, and acute abdomen is one such presentation. However, intussusception as the cause of acute abdomen in a patient with dengue haemorrhagic fever has not been previously reported. The authors report a child who was diagnosed to have intussusception during the critical phase of dengue haemorrhagic fever while having a platelet count of 15×103/cumm. The child had initial point-of-care ultrasound followed by detailed ultrasound of the abdomen by the radiologist, and the diagnosis of ileocaecal intussusception was confirmed. Intussusception was relieved by saline reduction and without needing laparotomy. Early diagnosis and non-operative management prevented emergency laparotomy.


Assuntos
Dengue , Intussuscepção , Dengue Grave , Criança , Família , Humanos , Intussuscepção/diagnóstico por imagem , Intussuscepção/etiologia , Dengue Grave/complicações , Dengue Grave/diagnóstico , Sri Lanka
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