Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.

OBJECTIVE: Childhood epilepsy is a common neurological disorder with a prevalence of 300-600 cases per 100,000 people. It is associated with refractory epilepsies, global developmental delay, and epileptic encephalopathies, causing epileptic syndromes characterized by cognitive and behavioral disorders. METHODS: In this retrospective cohort study, patients with refractory epilepsy and global developmental delay, defined as epileptic encephalopathy, who applied to the Aydin 7Maternity and Children's Hospital Genetic Diagnosis Center and were followed in the pediatric neurology clinic of our hospital, between July 2018 and July 2021, were included. RESULTS: Targeted next-generation sequencing molecular genetics results were reviewed, and 3 ALDH7A1, 1 AARS, 3 CACNA1A, 1 CTNNB1, 1 DCX, 2 DBH, 2 DOCK7, 1 FOLR1, 2 GABRB3, 2 GCH1, 1 VGRIN2B, 1 GUF1, 3 KCNQ2, 2 KCNT1, 1 NECAP1, 1 PCDH19, 1 PNPO, 1 SCN8A, 1 SCN9A, 4 SCN1A, 2 SLC25A22, 1 SLC2A1, 2 SPTAN1, 2 SZT2, 4 TBC1D24, 2 TH, and 1 PCDH19 (X chromosome) mutations were detected in three of the patients using the next-generation sequencing method. CONCLUSION: Although the development of gene panels aids in diagnosis, there are still unidentified disorders in this illness category, which is highly variable in genotype and phenotype. Understanding the genetic etiology is vital for genetic counseling and, maybe, the future development of remedies for the etiology.

Can Scoliosis Help the Early Diagnosis of Congenital Myasthenic Syndrome?

Background Congenital myasthenic syndromes (CMS) are a group of hereditary diseases of the neuromuscular junction. CMS are extremely rare diseases that cause hypotonia; however, scoliosis may theoretically be helpful in early diagnosis of CMS. The objective of this study was to emphasize the clinical features of the patients we followed up with the diagnosis of CMS and demonstrate that scoliosis is an important finding in the diagnosis of CMS in the presence of hypotonia/weakness. Materials and methods In this retrospective study, data were retrieved by examining the digital files of the patients who presented to Aydin Maternity and Children's Hospital and Elazig Fethi Sekin City Hospital Pediatric Neurology Clinics between 2018 and 2023. The diagnosis of CMS was strongly supported by a combination of clinical characteristics, neurophysiological studies, genetic tests, AChR antibodies, and serum creatine kinase measurement. The presence of scoliosis was evaluated by an orthopedics and traumatology specialist. Results Eleven CMS patients with accompanying scoliosis were included in the study. The mean age of the patients was 69.4±39.28 months. The age of the patients at the time of diagnosis was 42.7±35.19 months. Among the patients, eight were males (72.7%), and three were females (27.2%). Seven patients (63.6%) had COLQ mutations. Electromyography was conducted on eight patients, with one of them showing no pathological findings, while seven exhibited decremental responses. All patients had ptosis, while six (54.5%) had bulbar signs. Ten patients (90.9%) had weakness. Nine patients (81.8%) experienced frequent recurrent lower respiratory tract infections. Both the patient with CHAT mutation and RAPSN mutation had arthrogryposis. Conclusion In this study, CMS stands out as an essential consideration in the differential diagnosis, particularly when scoliosis accompanies early-onset muscle weakness.

Evaluation of pediatric patients presenting with acute-onset unilateral transient acquired blepharoptosis / Avaliação de pacientes pediátricos apresentando blefaroptose transitória unilateral de início agudo

ABSTRACT Purpose: To evaluate the clinical features of pediatric patients with acute-onset, unilateral transient acquired blepharoptosis. Methods: In this retrospective study, the clinical records of patients between April 2015 and June 2020 were reviewed for evaluation of demographic features, accompanying neurological and ophthalmologic manifestations, symptom duration, etiological cause, and imaging findings. Patients with congenital and acquired blepharoptosis with chronic etiologies were excluded. Results: Sixteen pediatric patients (10 boys and 6 girls) with acquired acute-onset unilateral transient blepharoptosis were included in this study. The patients' mean age was 6.93 ± 3.16 years. The most commonly identified etiological cause was trauma in 7 patients (43.75%) and infection (para-infection) in 5 patients (31.25%). In addition, Miller Fisher syndrome, Horner syndrome secondary to neuroblastoma, acquired Brown's syndrome, and pseudotumor cerebri were identified as etiological causes in one patient each. Additional ocular findings accompanied blepharoptosis in 7 patients (58.33%). Blepharoptosis spontaneously resolved, without treatment, in all the patients, except those with Miller Fisher syndrome, neuroblastoma, and pseudotumor cerebri. None of the patients required surgical treatment and had ocular morbidities such as amblyopia. Conclusion: This study demonstrated that acute-onset unilateral transient blepharoptosis, which is rare in childhood, may regress without the need for surgical treatment in the pediatric population. However, serious pathologies that require treatment may present with blepharoptosis.

RESUMO Objetivo: Avaliar as características clínicas de pacientes pediátricos com blefaroptose adquirida unilateral, transitória e de início agudo. Métodos: Neste estudo retrospectivo, foram revisados prontuários clínicos entre abril de 2015 e junho de 2020. Os pacientes foram avaliados em termos de características demográficas, manifestações neurológicas e oftalmológicas associadas, duração dos sintomas, etiologia e achados de imagem. Foram excluídos pacientes com blefaroptose congênita e com blefaroptose adquirida de etiologia crônica. Resultados: Foram incluídos neste estudo 16 pacientes pediátricos (10 masculinos e 6 femininos) com blefaroptose adquirida transitória unilateral de início agudo. A média de idade dos pacientes foi de 6,93 ± 3,16 anos. As causas etiológicas mais comumente identificadas foram trauma em 7 pacientes (43,75%) e infecção (casos parainfecciosos) em 5 pacientes (31,25%). Além disso, a síndrome de Miller-Fisher, a síndrome de Horner secundária a neuroblastoma, a síndrome de Brown adquirida e pseudotumor cerebral foram determinados como causas etiológicas em um paciente cada uma. Achados oculares adicionais estavam associados à blefaroptose em 7 pacientes (58,33%). Foi observada a resolução espontânea da blefaroptose, sem tratamento, em todos os pacientes, exceto nos pacientes com síndrome de Miller-Fisher, neuroblastoma e pseudotumor cerebral. Nenhum paciente precisou de tratamento cirúrgico. Morbidades oculares, como ambliopia, não foram encontradas em nenhum paciente. Conclusão: Este estudo demonstrou que a blefaroptose transitória unilateral de início agudo, rara na infância, pode regredir sem a necessidade de tratamento cirúrgico na população pediátrica. No entanto, também não deve ser esquecido que patologias graves que requerem tratamento podem se apresentar com blefaroptose.

Acute demyelinating encephalomyelitis and transverse myelitis in a child with COVID-19.

BACKGROUND: Corona virus disease 2019 (COVID-19) includes a wide range of diseases with varying pathophysiology in children and adults. Although the disease mainly affects the respiratory tract, neurological involvement is also reported in the literature. The most common neurological complaints due to COVID-19 are headache, dizziness and anosmia. Acute necrotizing myelitis, acute demyelinating encephalomyelitis (ADEM), acute axonal neuropathy, acute transverse myelitis, and Guillian-Barre syndrome have been reported as neurological dysfunctions associated with COVID-19. CASE: A ten-year-old male patient presented with complaints of fever, headache and generalized muscle pain. The patient developed inability to walk and significant muscle weakness during the disease course, and he was diagnosed with ADEM and transverse myelitis on magnetic resonance imaging (MRI). As the etiological agent, COVID-19 was detected in both the respiratory panel sample and the cerebrospinal fluid (CSF) sample by the polymerase chain reaction (PCR) technique. Pulse steroid, IVIG, and plasmapheresis treatment were administered. He started to stand with support during follow-up. CONCLUSION: We presented a case of COVID-19 related ADEM and transverse myelitis who responded to pulse steroid, IVIG, and plasmapheresis.

Evaluation of pediatric patients presenting with acute-onset unilateral transient acquired blepharoptosis.

PURPOSE: To evaluate the clinical features of pediatric patients with acute-onset, unilateral transient acquired blepharoptosis. METHODS: In this retrospective study, the clinical records of patients between April 2015 and June 2020 were reviewed for evaluation of demographic features, accompanying neurological and ophthalmologic manifestations, symptom duration, etiological cause, and imaging findings. Patients with congenital and acquired blepharoptosis with chronic etiologies were excluded. RESULTS: Sixteen pediatric patients (10 boys and 6 girls) with acquired acute-onset unilateral transient blepharoptosis were included in this study. The patients' mean age was 6.93 ± 3.16 years. The most commonly identified etiological cause was trauma in 7 patients (43.75%) and infection (para-infection) in 5 patients (31.25%). In addition, Miller Fisher syndrome, Horner syndrome secondary to neuroblastoma, acquired Brown's syndrome, and pseudotumor cerebri were identified as etiological causes in one patient each. Additional ocular findings accompanied blepharoptosis in 7 patients (58.33%). Blepharoptosis spontaneously resolved, without treatment, in all the patients, except those with Miller Fisher syndrome, neuroblastoma, and pseudotumor cerebri. None of the patients required surgical treatment and had ocular morbidities such as amblyopia. CONCLUSION: This study demonstrated that acute-onset unilateral transient blepharoptosis, which is rare in childhood, may regress without the need for surgical treatment in the pediatric population. However, serious pathologies that require treatment may present with blepharoptosis.

Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC study.

Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1-3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians' influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029).Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known: • Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections. • Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases. What is New: • Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly. • Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.

Vitamin B12 Deficiency Observed in Children With First Afebrile Seizures.

OBJECTIVE: Vitamin B12 deficiency can lead to many different types of neurological symptoms and seizure can be seen as the first symptom. In the present study, we aimed to evaluate patients with seizures who were found to have vitamin B12 deficiency and whose seizures resolved with vitamin B12 treatment. METHODS: A total of 26 infants were included in this retrospective study. The patients were evaluated in terms of clinical findings, laboratory tests including homocysteine, electrophysiological studies, neuroimaging studies, and other neurological examination findings. RESULTS: Of 26 patients, 14 (53.8%) were male. The mean age of the patients was 8±4.8 months. Sixteen patients had generalized tonic-clonic seizures, and two patients had epileptic spasm (West syndrome)-type seizures. Six patients had abnormal discharge on electroencephalography. Twelve patients had abnormal findings in brain magnetic resonance imaging studies. Homocysteine ​​level was high in all patients at admission. CONCLUSION: The presence of seizures, including infantile spasm, is a very important and treatable manifestation of vitamin B12 deficiency. Considering the irreversible sequelae of increased homocysteine, vitamin B12 supplementation administered for an appropriate period and at an appropriate dose both prevents the use of unnecessary antiepileptic drugs and eliminates the need for unnecessary tests and examinations.

Acute Ataxia in Childhood: Clinical Presentation, Etiology, and Prognosis of Single-Center Experience.

BACKGROUND: Acute ataxia is a common reason for presentation to the pediatric emergency department and the pediatric neurology clinic in childhood. Its incidence is between 1/100,000 and 1/500,000. Its most common reason is infections. OBJECTIVE: The aim of this study was to examine the clinical presentation, etiological factors, and prognosis of patients presenting to our regional tertiary pediatric neurology clinic with a diagnosis of acute ataxia. METHODS: An evaluation was made of patients younger than 18 years diagnosed with acute ataxia in our tertiary pediatric neurology clinic between 2009 and 2016. RESULTS: Thirty-nine children were included in the analysis. Sex, age, diagnoses, treatment options, and clinical and radiological findings were evaluated. Acute postinfectious cerebellar ataxia was the most common diagnosis (21/39 [51.2%]). No agent could be identified in viral serological examination in 34 patients (87.2%). Rotavirus was identified in 2 (10.5%) of the acute postinfectious cerebellar ataxia cases, and varicella-zoster virus, herpes simplex virus, and hepatitis A positivities were each identified in 1 case. In 20 (51.2%) of 39 patients, varying treatments were applied according to the primary etiology. CONCLUSIONS: Acute ataxia is a significant neurological problem in childhood. In this study, Rotavirus was the most common infectious agent. It may be related to vaccination. This study can be considered of value as the most comprehensive study conducted to date on this subject in the eastern region of Turkey.

A Novel SCN1A Mutation: A Case Report.

INTRODUCTION: Dravet syndrome (DS) is characterized by severe infant-onset myoclonic epilepsy with delayed psychomotor development and increased premature mortality. The seizures triggered by fire have been gradually decreased over time, and finally they start to occur without fever at the age of 2-3 years. Along with its initiation of myoclonic seizures in the early period, other types such as atypical absence, versive, and complex partial seizures occur between 1 and 4 years of age. CASE REPORT: A 3-year-old male patient with refractory epilepsy and neuromotor developmental retardation was admitted to our clinic. The patient initially had seizures in the afebrile period, when he was 4 months old, and he had a total of five seizures by the age of 1 year. Neuromotor developmental retardation developed over time in patients with normal neuromotor development in the early stages of his life. His cranial magnetic resonance imaging and metabolic test findings were normal. The SCN1A mutation was investigated, and a new variant mutation of SCN1A, homozygous (p.Y1599Ffs*19-c.4796delA) was detected. The patient's family was also screened and this new mutation was detected as heterozygous mutation. The patient had hepatomegaly. The etiology of hepatomegaly was investigated but no cause was found. CONCLUSION: Variant mutations of DS should be kept in mind and diagnostic genetic testing should be done in patients with neuromotor developmental retardation starting with afebrile seizures. In DS, hepatomegaly is not an expected condition. Maybe this new mutation might have caused hepatomegaly.

A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, "1033G>T", at the SERPING1 gene.

INTRODUCTION: Hereditary angioedema (HAE) may be fatal and diagnosis can be delayed up to 10 years. We aimed to screen HAE in two villages based on an index case of HAE and to investigate for the mutation of the C1 esterase inhibitor (C1-INH) gene. MATERIAL AND METHODS: A total of 124 people were screened in two villages. The frequency and severity of symptoms were scored. C4, C1-INH levels and C1-INH activity were measured. We investigated for mutations of the C1-INH gene. RESULTS: Thirty-five cases of type I HAE and 7 cases of type II HAE were determined. Thirty-one (73.8%) patients diagnosed with HAE were 18 years old or younger. There was a positive correlation between C4 levels, C1-INH levels (p < 0.0001, r = 0.81), and C1-INH activity levels (p < 0.0001, r = 0.631) and between the age at diagnosis and severity score (p < 0.0001, r = 0.651). A positive correlation was found between the age at first symptom onset and C4 levels (p = 0.002, r = 0.774), and C1-INH levels (p = 0.006, r = 0.714). A marginally significant negative correlation was found between C1-INH activity levels and severity scores (p = 0.1, r = -0.515). We identified a novel heterozygous 1033G>T missense variant of the C1-INH gene, SERPING1, in patients with type I HAE. CONCLUSIONS: There are long delay periods in the diagnosis of HAE and when the index case is present, family screening may be very important and even life-saving, in particular, in paediatric patients without symptoms. Furthermore, the present study provides evidence to link a novel mutation, c.1033G>T, to the development of HAE in a large HAE family from Turkey.

Congenital mirror movement associated with migraine: A case report.

Mirror movements occur in early childhood due to the maturation of the corpus callosum of noncrossing motor pathways. Such movements are considered normal until the age of 10 and are rarely reported in children older than 10 years. Mirror movements are involuntary movements that occur in the homologous contralateral extremity on voluntary activation. Permanent mirror movements can occur with anomalies; however, also are reported familial and sporadic cases. Migraine is the most common primary headache in childhood. Its prevalence ranges from 1% to 3% between the ages of 3 and 7, and from 8% to 23% in the adolescence. The prevalence of migraine in adolescent girls is higher. For the migraine diagnosis, the imaging studies are unnecessary, and a detailed history and physical examination are sufficient. In this study, we present a case of a 17-year-old girl with mirror movements accompanied by migraine.

Importance of Streptococci Infections in Childhood Neuropsychiatric Disorders.

Paediatric autoimmune neuropsychiatric disorders associated with streptococci (PANDAS) are important neuropsychiatric disorders in childhood. Streptococcus pyogenes infection associated with tics, obsessive-compulsive disorders, and chorea co-occurrence is important. Swedo et al. have increased the awareness of this situation since 1998. How streptococcal infections give rise to this condition is not clear yet, but the severity of the symptoms is reduced by the treatment of streptococcal infections is important. Eight-year- nine-month-old girl presented with complaints of a 2-year history of upper respiratory tract infections and increased severity of blinking of eyes, throat cleaning, tic disorder and obsession with hand cleaning. In addition, choreiform movements were present and fluoxetine did not improve the symptoms. The patient was followed-up and treated with PANDAS pre-diagnosis. Streptococcus treatment and prophylaxis decreased the patient's complaints. A six-year-four months old boy, admitted with abnormal hand and body movements, which increased severity after the school period, and causing deteriorated fine motor skills during infectious periods for two years. There were also complaints with vocal tics and obsessive-compulsive disorder in the form of throat cleaning. Treatment of S. pyogenes was administered in throat culture. After the penicillin prophylaxis, the complaints decreased. In this study, two patients were presented with choreiform movements, obsessive-compulsive disorder and tic disorder due to follow-up PANDAS diagnosis. PANDAS should be considered in children with neuropsychiatric disorders, especially symptoms associated with infection periods.

A hereditary angioedema screening on an index case: Turkey.

BACKGROUND: Hereditary angioedema (HAE) is characterised by recurrent episodes of angioedema and can be fatal. OBJECTIVE: The present study aimed to screen HAE. METHODS: A total of 60 individuals were screened. The frequency and severity of symptoms were scored from 0 to 8. Measurements were taken of C4 and C1 esterase inhibitor protein (C1-INH) levels. Mutation in the C1 inhibitor gene was examined in 9 patients with HAE. RESULTS: A positive correlation between the C1 esterase inhibitor protein levels and C4 level was detected in the group as a whole (p < 0.001, r = 0.725, n = 60). Anegative correlation between the C1 esterase inhibitor protein level and severity score was observed in the whole group (p < 0.001, r = -0.486, n = 60). A negative correlation was also detected in the entire group between the C4 level and severity score (p = 0.002, r = -0.389, n = 60). In the patients with HAE, a positive correlation between the C1 esterase inhibitor protein level and C4 levels was detected (p = 0.034, r = 0.705, n = 9). A heterozygous c. 601A > T nonsense variant was identified at the C1 esterase inhibitor gene-SERPING1-in patients with Type 1 HAE. CONCLUSION: It is well known that there is a prolonged delay in the diagnosis of HAE. The present study demonstrates that it is very important and even life-saving to screen for HAE on the basis of an index case.

Acute Mercury Poisoning in a Group of School Children.

OBJECTIVE: Elemental mercury is a toxic liquid element that is used widely in the home, medicine, agriculture, and industry. It is readily vaporized and inhaled at room temperature. Thereby, inhalation can cause acute or chronic poisoning. Mercury can be found in environmental naturally find but some dangers sources give rise to contaminations. It can be very dangerous to all living organisms, especially children. METHODS: This study presents the features of mercury poisoning in a group of pediatric cases. Data were obtained for 29 pediatric cases exposed to elemental mercury in a high school chemistry laboratory in Turkey. Patients with a blood mercury level exceeding 10 µg/L or a urine mercury level exceeding 15 µg/L were considered to have mercury poisoning. The patients were treated with 2,3-dimercaptopropane sulfonic acid or D-penicillamine. RESULTS: Twenty-nine children with mercury poisoning were admitted to the hospital. The median duration of exposure was 58 (range, 15-120) minutes. Ten (29%) children were asymptomatic. Physical and neurological examinations were normal in 19 (65.5%) children. The most common presenting complaint was headache. The most common neurological abnormality, partly dilated/dilated pupils, was present in 9 (31%) children. Mercury levels were measured in blood samples every 5 days, and the median blood mercury level was 51.98 (range, 24.9-86.4) µg/L. There was a positive correlation between the duration of exposure and maximum blood/urine mercury levels (P = 0.001). CONCLUSIONS: Elemental mercury exposure is potentially toxic; its symptomatology varies, especially in children. Secure storage of mercury and other toxic substances and provision of information about this subject to individuals who might be exposed to mercury and their families might help to prevent mercury poisoning.

Hemophagocytic lymphohistiocytosis associated with oxcarbazepine.

Kirik S, Günes H, Yurttutan S, Sarisik N, Acipayam C, Kirik Y. Hemophagocytic lymphohistiocytosis associated with oxcarbazepine. Turk J Pediatr 2019; 61: 297-300. Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening multisystem disorder. Reports of the disorder as a side effect of drugs are extremely rare. We report the case of a 3-year-old boy with a history of epileptic seizures in which oxcarbazepine was added to treatment for the last 35 days and dose had been increased. For 10 days he had a fever, hepatosplenomegaly, rash, edema and other systemic symptoms. He was diagnosed with HLH after bone marrow examination. Oxcarbazepine treatment was terminated after the intravenous immunoglobulin treatment. The next day, clinical and laboratory results had improved. This is the first HLH report of an association with oxcarbazepine. Bone marrow aspiration may be indicated to confirm the diagnosis when facing a patient with systemic symptoms after newly added antiepileptic drug treatment.

Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.

Background Metachromatic leukodystrophy (MLD) is an autosomal recessively (AR) inherited disease caused by the deficiency of the enzyme arylsulfatase A (ARSA). Although MLD is the most common form of hereditary leukoencephalopathy, it is still very rare. More than 200 gene mutations have been identified in the ARSA gene. The most frequently identified mutation is the one located on chromosome 22q13.33. In the present study, new mutations are reported in two siblings of different ages and with different clinical presentations. Case presentation A 9-year-old male patient, suffering from ataxia, attention deficit and perceptual difficulties, was first seen at the age of 7. While the findings of neurological examination and neuroradiological evaluation suggested MLD, the ARSA enzyme levels were analyzed and found to be at a lower limit. Genetic analysis revealed variant homozygous mutations of the ARSA gene at p.N352S/c.1055T>C in exon 6 and at p.E331K/c.991G>A in exon 7. In the genetic analysis of his three siblings and parents, a variant heterozygous mutation of the ARSA gene was detected at p.N352S/c.1055T>C in exon 6 and at p.E331K/c.991G>A in exon 7. Conclusions MLD is a rare disease; however, it is likely to find different variant forms in our population, in which the frequency of consanguineous marriages is high. Genetic diagnosis is important in symptomatic cases with enzyme levels within the normal ranges.

Idiopathic Unilateral Paralysis of the Palate in a Youth.

Unilateral isolated paralysis of the soft palate is a rare clinical entity that is associated with rhinolalia and the flow of nasal fluids from the nostril on the affected side. We report a case of a 17-year-old boy admitted complaining of nasal speech and drinks flowing into his right nostril. Most cases of soft palate palsy are idiopathic, whereas a few cases are caused by viral infections or tumors. We describe an isolated case of soft palate palsy with spontaneous recovery within 1 month.

Evaluation of two non-myasthenic patients with ptosis.

Decreased height of the eyelid or the narrowing of the lid is called ptosis. Ptosis has several causes. Malignancy-related conditions such as Horner's syndrome, which causes unilateral ptosis in the pediatric age group, and patients with malignancy receiving chemotherapeutic treatment, are often secondary to these drugs and ptosis is a clue of underlying diseases. Underlying pathologies can lead to different clinical conditions such as cognitive impairment from coma, the presence of ptosis should be cautionary. In this study, we present two patients with malignancy who were admitted with ptosis. The first patient was diagnosed as having neuroblastoma and treated with neuroblastoma-directed chemotherapeutics. The second patient was diagnosed as having acute lymphoblastic leukemia and developed vincristine-induced ptosis and recovered on treatment with pyridoxine and pyridostigmine. In conclusion, non-myasthenic ptosis may develop due to involvement of the central nervous system during malignancy or neurotoxic effects of chemotherapeutic agents. Therefore, patients who present with ptosis should be evaluated for the etiologic diagnosis.