Unusual Presentation of a Hemiplegic Migraine in a Seven-Year-Old Child: A Case Report.

In the pediatric population, headache is a common presenting symptom, and migraine is often the diagnosis. A hemiplegic migraine is characterized by an aura and sudden-onset weakness on one side of the body that usually resolves without causing any permanent neurological damage. In this case, we present a seven-year-old male child with a known case of proximal tubular dysfunction (homozygous mutation in the SLC4A4 gene) who presented to the emergency department with a one-day history of weakness on the right side of his body. A few hours after being discharged from the hospital, he began complaining of a severe headache on the left side, accompanied by photophobia, phonophobia, and high fever. Radiology scans and laboratory workup were unremarkable, and encephalitis was ruled out. He was later diagnosed with hemiplegic migraine based on his history and clinical presentation.

Intravesical gentamicin instillation in the prevention of recurrent urinary tract infections in children with neurogenic bladder- a single-center retrospective observational study.

BACKGROUND: Recurrent urinary tract infections (UTI) in children with neurogenic bladder (NGB) put them at high risk of morbidity and mortality from urosepsis and end-stage renal disease (ESRD). Since the efficacy of low-dose prophylactic antibiotics to prevent these recurrences has been declining since the emergence of extended-spectrum beta-lactamase (ESBL) organisms, intravesical gentamicin instillation has also been used, but only scarce data in children is available in the literature. OBJECTIVE: We evaluate the efficacy of intravesical gentamicin instillation to reduce UTIs in children with NGB, compare it with oral antibiotic prophylaxis and determine its effect on pathogens resistance to antibiotics. STUDY DESIGN: Retrospective observational study of 17 children with NGB managed in a tertiary center. Intravesical gentamicin instillation followed an initial period of oral antibiotic prophylaxis. In a conditional negative binomial regression model, a matched comparison of the rate of UTIs, the identified pathogens and their antibiotics susceptibility between the two therapies was performed for each individual child, RESULTS: When compared to antibiotic prophylaxis, intravesical gentamicin instillation showed no significant difference in the yearly rate of UTI, symptomatic UTI, or admissions for intravenous antibiotic therapy. However, it was associated with a 38% reduction in the incidence rate ratio of UTI (p = 0.04) and 75% of asymptomatic UTI (p = 0.006) After intravesical gentamicin instillation, five children (31%) had a gentamicin-resistant UTI, similar to before that treatment (p = 0.76). DISCUSSION: Although the overall rate of UTI and of asymptomatic infections were significantly lower with intravesical gentamicin instillation than during oral antibiotic therapy, there was no significant difference in the rate of symptomatic UTIs or UTIs requiring admissions, probably because of the small sample size. In addition, neither an emergence of ESBL pathogens nor the rate of pathogens resistance to gentamicin was observed with intravesical gentamicin instillation. As to the potential nephrotoxicity of aminoglycosides, the calculated GFR for all children remained normal. Strengths of our study include the use of a matched paired comparison of each participant with him/herself with each treatment modality, thus eliminating potential confounding by some individual characteristics. In addition, and unlike previous studies, we have also used a robust multivariate statistical analysis to compare counts and rates of outcomes. Limitations include the absence of gentamicin serum levels monitoring, of hearing testing, and also the small sample size. CONCLUSION: Intravesical gentamicin instillation decreases the overall rate of UTI and asymptomatic infections in children with NGB without increasing the rate of bacterial resistance to gentamicin.

Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.

We report the case of a young Emirati boy with HDR (Hypoparathyroidism, sensorineural Deafness, and Renal hypoplasia) syndrome due to the novel heterozygous deletion of two nucleotides (c.35_36delGC ) in exon 2 of the GATA3 gene. The patient developed hypocalcemia and hypomagnesemia at 3 weeks of age with high fractional excretion of magnesium, indicating renal magnesium loss. This is the first published report of hypomagnesemia in association with HDR syndrome.

Epidemiology of Bronchiolitis in Hospitalized Infants at Tawam Hospital, Al Ain, United Arab Emirates.

BACKGROUND: Bronchiolitis is the commonest lower respiratory tract infection, found worldwide in children < 2 years of age. Over sixty percent of cases are caused by Respiratory Syncytial Virus (RSV). The disease is known to have significant morbidity, mortality and health care costs. Its seasonal variability, manifestations and complications vary between countries. The aim of this study was to determine the epidemiological and clinical characteristics of infants hospitalized with bronchiolitis in Al Ain City, United Arab Emirates. METHODS: Retrospective observational chart review was made of an unselected cohort of infants ≤ 2 years admitted to the pediatric department of Tawam hospital over a 3-year period and discharged with the diagnosis of bronchiolitis. Epidemiological data and risk factors were analyzed. RESULTS: RSV was the commonest pathogen (51%). Hospitalizations occurred year-round but increased significantly in December and January. The patients' median age was 5.8 months with a male predominance (male:female ratio of 1.5:1.0). The mean age at admission was 6.6 months and presentation occurred, on average, 2.9 days after the onset of the symptoms. The majority (94%) had respiratory distress on presentation. Chest x-ray was performed in 80% of the patients. Most children received bronchodilator therapy and oxygen therapy was administered to 42%. The mean duration of hospital stay was 3 days. CONCLUSION: Bronchiolitis remains a common reason for hospital admission and carries significant morbidity. RSV is the primarily responsible virus for hospital admissions and morbidity.A better understanding of the burden of bronchiolitis in our setting would enable better planning and use of hospital resources to minimize its short and long-term sequelae.

Chronic Immune Thrombocytopenia and Hashimoto's Hypothyroidism in an Adolescent: Presentation and Implications.

Immune thrombocytopenia (ITP) is a disorder characterized by immune-mediated destruction of thrombocytes leading to peripheral blood platelet count of <100 × 10^9/L. Primary ITP is a terminology used in the absence of other causes or disorders that may be associated with thrombocytopenia, i.e., isolated thrombocytopenia. The term secondary ITP is used if such diseases coexist. We present here a case of a 14-year-old female diagnosed with immune thrombocytopenia. When her evaluation was not strongly supportive of primary ITP, she was screened and proved to have a concomitant Hashimoto thyroiditis. Contrary to the popular belief about secondary ITP in adult population, treatment of our patient's hypothyroidism did not improve her platelet's count, and the patient needed multiple immunosuppressive medications to improve her condition.

Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Granulomatous Disease.

In the United Arab Emirates, BCG (Bacillus Calmette-Guérin) is administered to all newborns. We present here a young infant with an inborn error of immunity (IEI) who developed fatal adverse events to this live-attenuated vaccine. This male infant received BCG (Serum Institute of India Pvt., Ltd., India) on Day 11 of life. On Day 25, he developed fever, followed by cervical lymphadenitis and bilateral otitis media with fluid drainage. On Day 118, he was admitted with severe hemophagocytic lymphohistiocytosis (HLH), and passed away on Day 145. The diagnostic exome sequencing test identified a hemizygous nonsense variant, NM_000397.3(CYBB):c.676C>T, p.Arg226* (rs137854592). Pathogenic variants of CYBB [cytochrome b(-245), beta subunit; Mendelian Inheritance in Man [MIM] accession code, 300481] are known to cause "immunodeficiency 34, mycobacteriosis, X-linked" (IMD34, MIM#300645) and "chronic granulomatous disease, X-linked" (CGDX, MIM#306400). The natural history of his illness is consistent with "X-linked recessive Mendelian susceptibility to mycobacterial disease (MSMD)." This entity is responsible for his BCG disease and is a likely trigger of his HLH. This disastrous event underlines the importance of developing worldwide policies that target BCG disease prevention, especially in communities with high prevalence of IEI. Moreover, screening for genetic causes of MSMD in the community could pave the way, at least partially, for scale-up of tuberculosis (TB) prevention.

Corrigendum to "Chronic Immune Thrombocytopenia and Hashimoto's Hypothyroidism in an Adolescent: Presentation and Implications".

[This corrects the article DOI: 10.1155/2021/6649155.].

Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency.

Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form of combined immune deficiency (CID) that presents in the first few months of life with failure to thrive, recurrent infections, opportunistic infections along with liver impairment. Herein, we are describing a Pakistani patient with a homozygous novel variant in the SP110 gene, presenting with classical phenotypic manifestations of VODI. He presented at the age of 3 months with opportunistic infections and later developed liver failure. Conclusion. Hepatic veno-occlusive disease with immunodeficiency is a rare cause of immunodeficiency, and this is the first case report from the Middle East in a patient of Pakistani origin. It is important to have a high suspicion for this disease, in patients presenting early life with a picture of CID and deranged liver function, as the earlier the diagnosis and treatment, the better the prognosis.

Significance of platelet count in children admitted with bronchiolitis.

AIM: To determine the true prevalence of thrombocytosis in children less than 2 years of age with bronchiolitis, its association with risk factors, disease severity and thromboembolic complications. METHODS: A retrospective observational medical chart review of 305 infants aged two years or less hospitalized for bronchiolitis. Clinical outcomes included disease severity, duration of hospital stay, admission to pediatric intensive care unit, or death. They also included complications of thrombocytosis, including thromboembolic complications such as cerebrovascular accident, acute coronary syndrome, deep venous thrombosis, pulmonary embolus, mesenteric thrombosis and arterial thrombosis and also hemorrhagic complications such as bleeding (spontaneous hemorrhage in the skin, mucous membranes, gastrointestinal, respiratory, or genitourinary tracts). RESULTS: The median age was 4.7 mo and 179 were males (59%). Respiratory syncytial virus was isolated in 268 (84%), adenovirus in 23 (7%) and influenza virus A or B in 13 (4%). Thrombocytosis (platelet count > 500 × 109/L) occurred in 88 (29%; 95%CI: 24%-34%), more commonly in younger infants with the platelet count declining with age. There was no significant association with the duration of illness, temperature on admission, white blood cell count, serum C-reactive protein concentration, length of hospital stay or admission to the intensive care unit. No death, thrombotic or hemorrhagic events occurred. CONCLUSION: Thrombocytosis is common in children under two years of age admitted with bronchiolitis. It is not associated with disease severity or thromboembolic complications.

Hyponatraemia and neurological complications in children admitted with bronchiolitis.

BACKGROUND: Hyponatraemia occurs during bronchiolitis, sometimes with neurological manifestations. The prevalence of the latter differs widely and little is known about the time of occurrence and associated factors. This study was undertaken to investigate these complications. METHODS: This was a retrospective observational chart review of a cohort of 233 infants under 2 years of age admitted with bronchiolitis to a teaching hospital in the United Arab Emirates. RESULTS: Hyponatraemia (serum sodium <135 mmol/L) occurred in 105 infants (45%, 95% CI 38-51). Hyponatraemia was present on admission in 84 infants (80%) with 90% of cases occurring within 6 days of the onset of illness. It was mild (130-135) in 100 infants (95%) and severe (<130) in five (5%). It was not significantly associated with age, duration of illness before admission, viral aetiology, white cell count or serum C-reactive protein concentrations, or the volume of administered intravenous fluid or use of 0.18% sodium chloride (NaCl). Neurological manifestations occurred in a 29-day-old child with a serum sodium level of 123 mmol/L while receiving two-thirds intravenous maintenance fluids (0.18% NaCl). His developmental milestones remained normal on follow-up to the age of 5 years. CONCLUSION: Hyponatraemia is common in infants with bronchiolitis and occurs in the majority within 6 days of onset of symptoms. There was a significant association between the presence of fever (>38°C) on admission and the duration of hospitalisation.

Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations.

Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in renal tubular handling of sodium, potassium and chloride. Previously considered as genotypic and phenotypic heterogeneous diseases, recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition. Although they share some characteristic metabolic abnormalities such as hypokalemia, metabolic alkalosis, hyperplasia of the juxtaglomerular apparatus with hyperreninemia, hyperaldosteronism, the clinical and laboratory manifestations may not always allow distinction between them. Diuretics tests, measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change (< 2.3%) in the fractional excretion of chloride from baseline in GS when compared with BS, except when BS is associated with KCNJ1 mutations where a good response to both diuretics exists. The diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such children. Clinical symptoms and biochemical markers of GS and classic form of BS (type III) may overlap and thus genetic analysis may specify the real cause of symptoms. However, although genetic analysis is available, its use remains limited because of limited availability, large gene dimensions, lack of hot-spot mutations, heavy workup time and costs involved. Furthermore, considerable overlap exists between the different genotypes and phenotypes. Although BS and GS usually have distinct presentations and are associated with specific gene mutations, there remains considerable overlap between their phenotypes and genotypes. Thus, they are better described as a spectrum of clinical manifestations caused by different gene mutations.

Renal tract abnormalities missed in a historical cohort of young children with UTI if the NICE and AAP imaging guidelines were applied.

OBJECTIVE: In a historical cohort of children with a urinary tract infection (UTI) who had already undergone all the imaging procedures, the aim was to determine renal tract abnormalities which would have been missed had we implemented the new guidelines from the National Institute for Health and Care Excellence in the United Kingdom (NICE) or the American Academy of Pediatrics (AAP). MATERIAL AND METHODS: After a UTI episode, forty-three children (28 females, 65%) aged between 2 months and 2 years presenting at two general hospitals with a febrile UTI before 2008 underwent all the recommended imaging studies predating the new guidelines. Hydronephrosis was defined and graded according to the Society for Fetal Urology (SFU) classification. Hydronephrosis grade II (mild pelvicalyceal dilatation), grade III (moderate dilatation), and grade IV (gross dilatation with thinning of the renal cortex), duplication, vesicoureteral reflux (VUR) grade II and above, renal scarring and reduced renal uptake (<45%) on technetium-99m-labeled dimercaptosuccinic acid (DMSA) scintigraphy were considered significant abnormalities. We calculated the proportion of abnormalities which would have been missed had the new guidelines been used instead. RESULTS: The median of age was 7.6 months (mean 8.7, range 2-24 months), with the majority (n = 37, 86%) being under 1 year of age. Ultrasound (US) showed hydronephrosis in 14 (32%), all grade II. A voiding cystourethrogram (VCUG) was performed in all and showed VUR ≥ grade II in 16 (37%), including eight children (19%) where it was bilateral. DMSA scan showed scarring in 25 children (58%) of whom 11 (26%) had bilateral scars. Reduced differential renal uptake was present in 10 children (23%). Of the 29 children with normal US, 18 (62%) had renal scarring and nine (31%) had VUR ≥ grade II. The NICE guidelines would have missed 63% of the children with VUR ≥ grade II, including a high proportion of grades IV and V VUR, 44% of the children with renal scarring, and 20% of the children with decreased renal uptake, including some children with bilateral renal scarring and with decreased renal uptake. The AAP guidelines would have missed 56% of the children with VUR ≥ grade II, including a high proportion of grades IV and V VUR, and all children with renal scarring as well as those with decreased renal uptake. CONCLUSION: The prevalence of renal tract abnormalities missed by the new guidelines is high. They should be used with full awareness of their limitations.

Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene.

Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap. Bartter syndrome and Gitelman syndrome are autosomal recessive salt-losing tubulopathies with hypokalemia, metabolic alkalosis, hyperreninemia, hyperplasia of the juxtaglomerular apparatus, hyperaldosteronism, and, in some patients, hypomagnesemia. Here we describe four patients from an inbred family with a novel missense variant in the CLCNKB gene. All of patients are asymptomatic; yet they have the typical metabolic abnormality of salt losing tubulopathies. One of those patients had hypomagnesaemia while others not. Clinical and laboratory data of all patients was described. All 4 patients have a homozygous c.490G > T missense variant in exon 5 of the CLCNKB gene. This variant alters a glycine into a cysteine on amino acid position 164 of the resulting protein (p.Gly164Cys). The c.490G > T variant is a novel variant not previously described in other patients nor controls. Polyphen analysis predicts the variation to be possibly damaging. Analysis of SLC12A3 was normal. Here in we are describing a novel homozygous c.490G > T missense variation was identified in exon 5 of the CLCNKB gene was identified in an Emirati patients with a mild manifestation of Bartter - Gitelman syndrome.

Uric acid excretion in rotavirus gastro-enteritis.

BACKGROUND: Urate urolithiasis in children has been reported in Japan in association with rotavirus (RV) gastro-enteritis (GE). AIMS: To test the hypothesis that children with RV GE have an increased risk of hyperuricosuria compared with GE presumably caused by other viruses. OBJECTIVES: Prospective analytic cohort study of urinary uric acid excretion in children presenting with GE between 1 January 2011 and 31 May 2012. METHODS: Two groups were compared: group R (RV GE) and group N (with presumed other viral causes of GE). Serum urea, creatinine (Scr), uric acid (Sur) and urinary uric acid were compared with creatinine (Uur/Ucr) ratio, fractional excretion of uric acid (FEur) and uric acid for creatinine clearance between the two groups. RESULTS: A total of 87 Emirati children were enrolled in the study. Group R included 46 children (mean age 25 months) and group N 41 children (mean age 43 months). There was no significant difference between the two groups in the blood levels of urea, creatinine, uric acid, nor in urinary pH and specific gravity. Urinary uric acid excretion measured by Uur/Ucr ratio, uric acid for creatinine clearance and FEur was not significantly different between the two groups. CONCLUSION: There was no significant difference in uric acid levels and uric acid excretion between patients with RV GE and those with other presumed viral causes of GE. Further studies with larger sample sizes including children with more severe dehydration and a prolonged course of GE are needed.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): report of three cases with a novel mutation in CLDN19 gene.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in the genes coding for tight junction proteins Claudin-16 and Claudin-19. Affected individuals usually develop nephrocalcinosis and progressive renal failure; some of them may have ophthalmologic involvement as well. Phenotypic description of three affected individuals from the same Middle Eastern kindred (two sisters and their cousin) is presented. This includes both clinical and laboratory findings upon initial presentation and subsequent follow-up. Molecular analysis of the CLDN19 gene was performed on the three cases and one set of parents. A novel homozygous missense mutation in CLDN19 (c.241C>T, p.Arg81Cys) was detected in all three affected children. The parents were heterozygous. Clinical and laboratory data in the three children with renal and ocular manifestations of FHHNC are described. Genetic analysis revealed a novel mutation in the CLDN19 gene. FHHNC is a rare cause of nephrocalcinosis, and we believe that it should be considered in the presence of nephrocalcinosis with hypercalcuria and hypermagnesuria.

Bradycardia following oral corticosteroid use: case report and literature review.

INTRODUCTION: Corticosteroids are used in various clinical conditions that include many immune-mediated inflammatory diseases. Different side effects were described including cardiac arrhythmias. Most of those arrhythmias were in the form of bradycardia which usually occurs with high intravenous steroid doses. More significant arrhythmias and cardiac arrest were also described. In this report we describe a case of bradycardia that developed after the use of oral corticosteroids. CASE REPORT: We report a case of bradycardia that developed in a 14 year-old male after receiving oral prednisone. The patient had steroid-sensitive nephrotic syndrome and presented with anasarca that started to develop few days prior to hospitalization. He had no underlying heart disease. Vitals was normal. Investigations confirmed a new nephrotic relapse. Oral prednisone 80 mg / day divided into three doses was started. Albumin infusions were initially given with intravenous furosemide to control the edema. Seven days after hospitalization, he developed bradycardia with a pulse rate of 50-60 per minute, which was less than 50% of the baseline heart rate. He didn't develop significant symptoms and he had no other apparent corticosteroids side effects. Cardiac evaluation and echocardiography were normal. Electrocardiogram revealed only sinus bradycardia.The bradycardia recovered after decreasing the dose of steroids to 60 mg PO every other day and he was discharged in stable condition a few days later. CONCLUSION: Cardiac arrhythmias may develop with all forms of steroids including oral prednisone. Bradyarrhythmias can occur even with standard doses of oral prednisone.

Systemic lupus erythematosus with severe nephritis that mimicked Henoch-Schoenlein purpura.

INTRODUCTION: Systemic lupus erythematosus (SLE) belongs to a family of related autoimmune rheumatic disorders that are capable of affecting multiple organs, and they are all associated with a variety of autoantibodies. Henoch Schoenlein purpura (HSP) is a sort of systemic vasculitis that is not associated with auto-antibodies and can affect different organs including the kidneys. CASE REPORT: A 12 year-old girl presented with abdominal pain, low grade fever, swollen and tender feet and left hand, skin rash on the lower extremities, and high blood pressure. Initial laboratory tests revealed severe proteinuria, microscopic hematuria and low C3 level. Renal biopsy showed diffuse proliferative glomerulonephritis with IgA, fibrinogen and C3 deposits. The case was accordingly diagnosed as HSP with severe IgA nephropathy. Treatment was started with mycophenolate mofetil (MMF) and pulse methylprednisolone followed by prednisolone. The patient improved and treatment was discontinued after 5.5 months. One month after withdrawal of her medications, the patient presented again with serositis and recurrent proteinuria. Both antinuclear antibodies (ANA) and anti dsDNA were positive. At this point she was diagnosed to have SLE disease and immunosuppressive treatment was restarted. Following this, symptoms disappeared, proteinuria regressed and anti-dsDNA titer dropped. CONCLUSION: This case presented with features of HSP and was later-on diagnosed to have SLE. This kind of clinical overlapping has not been reported in the literature to the best of our knowledge.

Lupus cystitis in an Omani girl.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by multiple organs involvement. Bladder involvement (Lupus cystitis) is a rare manifestation of SLE, and occurs in association with gastrointestinal manifestations. We report a case of lupus interstitial cystitis with bladder irritation and bilateral hydroureteronephrosis in an adolescent female who was treated with intravenous methylprednisolone pulse therapy followed by oral prednisolone and mycofenolate mofetil (MMF). Her symptoms ameliorated, and the hydroureteronephrosis improved. She was presented again with systemic flare up of the disease together with hydrouretronephrosis, but without bladder irritation symptoms. The diagnosis of lupus cystitis was confirmed by radiographic abnormalities, cystoscopy and bladder biopsy.

The significance of fetal renal pelvic dilatation as a predictor of postnatal outcome.

OBJECTIVES: To define the clinical outcome of fetal renal pelvic dilatation (FRPD) in cohort of infants in United Arab Emirates. STUDY DESIGN: Data were collected from all fetuses having FRPD from January 2005 to February 2008. FRPD was graded as normal (<5 mm), mild (5-9 mm), moderate (10-15 mm), and severe (>15 mm). RESULTS: Data from 80 fetuses with 120 kidneys were studied. Nine resolved antenatally and seven were lost to follow up. Of the remaining 89 FPRD (64 patients), 36% had normal postnatal ultrasound, 22.5% significant uropathy, and 41.5% had isolated hydronephrosis. Pelvi-ureteric junction obstruction was the commonest identified underlying abnormality. Severe FRPD predicted significant postnatal uropathy with a sensitivity of 65% and a specificity of 98.6%. Moderate FRPD increased the sensitivity to 95% but decreased the specificity to 60.9%, mild FPRD was seldom (4%) associated with significant postnatal pathology. Postnatal resolution was significantly (p = 0.01) higher in mild RPD than in the moderate or severe group. CONCLUSION: Severe FRPD need comprehensive postnatal assessment. Although moderate FRPD had a high prevalence of uropathy, they rarely needed surgical intervention. Parents could be reassured that RPD of less than 10 mm in the third trimester is unlikely to be associated with significant uropathology.