Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement.

Niemann-Pick disease type C (NPC) is a rare autosomal recessive neuro-visceral lipid storage disease. We describe nine cases of infantile-onset NPC with various genetic mutations in the NPC1 gene, which presented with neonatal cholestasis. Serum alpha-fetoprotein (AFP) levels were obtained as part of their workup during the first four months of life.

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects.

Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the (type I) or (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the years 1997 and 2013. Four and a branch of a fifth of these families were previously described.

The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Urea cycle disorders (UCDs), including OTC deficiency (OTCD), are life-threatening diseases with a broad clinical spectrum. Early diagnosis and initiation of treatment based on a newborn screening (NBS) test for OTCD with high specificity and sensitivity may contribute to reduction of the significant complications and high mortality. The efficacy of incorporating orotic acid determination into routine NBS was evaluated.

Comparison of Thrombocyte Count Between Pediatric Patients With Migraine or Tension-Type Headache: A Retrospective Cohort Study.

Hypercoagulability may explain the increased risk of thromboembolic cerebrovascular events in patients with migraine. Thrombocytes play a crucial part in the coagulation process, and some studies have demonstrated hyperaggregation of thrombocytes in adult migraineurs. We aimed to compare thrombocyte count between pediatric patients with migraine or tension-type headache and to evaluate the correlation of thrombocyte count with headache parameters.

Thrombophilia Testing in High Pediatric Migraine Risk Children With Migraine.

This study sought to investigate the need for thrombophilia screening in pediatric migraineurs. The cohort included 45/824 children (5.5%) aged 3-18 years with migraine who were tested for thrombophilia at a tertiary pediatric headache clinic.

Cephalic cutaneous allodynia in children and adolescents with migraine of short duration: A retrospective cohort study.

Background: Allodynia is prevalent in adults with migraine and has been associated with long disease duration and severe course. Studies of the pediatric population are sparse. The aim of this study was to evaluate the rate of cephalic cutaneous allodynia in children and adolescents within the first 6 months of migraine onset and to identify associated clinical and migraine-related parameters.

Mycobacterium marinum: a rare cause of chronic lymphocutaneous syndrome.

Unlabelled: We investigated the prevalence of Mycobacterium marinum lymphadenitis and describe 4 children with the disease. The database of the microbiology laboratory of a tertiary pediatric medical center was searched for all cases of nontuberculous mycobacterial lymphadenitis from 1996 to 2016. M.

[TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?].

Introduction: Bi-allelic mutations in the TRMU gene cause reversible infantile liver failure. Little is known about extra-hepatic manifestations in these patients.

Background: Two infants, aged 4 and 5 months, presented with progressive life threatening liver failure, characterized by lactic acidosis, highly elevated alpha-fetoprotein and recurrent hypoglycemia.

Younger Age of Migraine Onset in Children Than Their Parents: A Retrospective Cohort Study.

Migraine is known to run in families and has long been considered a strongly heritable disorder. We sought to investigate the age of onset of migraine between successive generations. Our retrospective cohort included 102 children with migraine who were referred to a pediatric headache clinic and their affected parent(s).

Symptoms and clinical parameters of pediatric and adolescent migraine, by gender - a retrospective cohort study.

Background: The available data on gender differences in clinical migraine parameters among pediatric patients are based on relatively few studies, which did not use the current version of the International Classification of Headache Disorders (ICHD) of the International Headache Society. The aim of the present study was to compare between males and females, demographic and clinical characteristics of children and adolescents with migraines diagnosed according to the ICDIII-beta version.

Methods: The electronic database of a tertiary pediatric headache clinic was searched for all children and adolescents diagnosed with migraine headaches in 2010-2016.

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

Background: Rhabdomyolysis is a clinical emergency that may cause acute kidney injury (AKI). It can be acquired or due to monogenic mutations. Around 60 different rare monogenic forms of rhabdomyolysis have been reported to date.

Vomiting and migraine-related clinical parameters in pediatric migraine.

Objective/background: To investigate the characteristics of vomiting in pediatric migraineurs and the relationship of vomiting with other migraine-related parameters.

Methods: The cohort included children and adolescents with migraine attending a headache clinic of a tertiary pediatric medical center from 2010 to 2016. Patients were identified by a retrospective database search.

Comparison of comorbidities of migraine and tension headache in a pediatric headache clinic.

Objective To compare comorbidities between migraine and tension headache in patients treated in a tertiary pediatric headache clinic. Methods Files of patients with migraine or tension headache attending a pediatric headache clinic were retrospectively reviewed for the presence of organic comorbidities. Additionally, patients were screened with the self-report Strengths and Difficulties Questionnaire to identify nonorganic comorbidities.

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit.

The mitochondrial inner membrane possesses distinct subdomains including cristae, which are lamellar structures invaginated into the mitochondrial matrix and contain the respiratory complexes. Generation of inner membrane domains requires the complex interplay between the respiratory complexes, mitochondrial lipids and the recently identified mitochondrial contact site and cristae organizing system (MICOS) complex. Proper organization of the mitochondrial inner membrane has recently been shown to be important for respiratory function in yeast.

Factors Influencing Response to Pharmacologic Treatment of Migraine in a Pediatric Headache Clinic.

Objective: The responses of different patients to the same drug may vary as a consequence of biologic, psychosocial, and genetic differences. The aim of this study was to identify clinical factors associated with a response to pharmacologic treatment in pediatric patients with migraine.

Methods: The medical files of patients with migraine attending the headache clinic of a tertiary pediatric medical center in 2010-2015 were reviewed.

Persistent Headache and Cephalic Allodynia Attributed to Head Trauma in Children and Adolescents.

The aim of the study was to investigate clinical features of headache associated with minor versus moderate to severe traumatic brain injury and of posttraumatic versus primary headache in children and adolescents. Study group included 74 patients after mild (n = 60) or moderate to severe (n = 14) traumatic brain injury identified by retrospective review of the computerized files of a tertiary pediatric headache clinic. Forty patients (54%) had migraine-like headache, 23 (31.

Long-term Follow-up of Observation-Only Management of Nontuberculous Mycobacterial Lymphadenitis.

A total of 21 children with clinically and microbiologically proven craniofacial nontuberculous mycobacterial lymphadenitis managed by observation only at a tertiary medical center in 1993-2005 were evaluated for scar parameters at least 2 years after diagnosis. Parents completed a satisfaction questionnaire. Median follow-up time from presentation was 6.

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys) in MED25 as the cause of a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability in seven patients from four unrelated families, all originating from the same village.

Association of pediatric obesity and migraine with comparison to tension headache and samples from other countries.

The link between body weight and headache has hardly been examined in children. The aim was to evaluate the association of obesity and migraine in selected pediatric patients and compare the findings with the literature. Data on clinical symptoms, headache type, and body mass index standard deviation score were derived from the medical files of 245 patients with migraine and 87 with tension headache.

Characteristics and management of arachnoid cyst in the pediatric headache clinic setting.

Objective/background: Arachnoid cysts are generally identified incidentally on brain imaging, although they occasionally cause symptoms because of expansion or bleeding. This study aims to describe patients in whom an arachnoid cyst was identified on magnetic resonance imaging (MRI) study performed for the evaluation of headache in a pediatric headache clinic and to highlight the clinical dilemma posed by this finding.

Methods: A retrospective descriptive study design was used.

Association of age at onset of migraine with family history of migraine in children attending a pediatric headache clinic: a retrospective cohort study.

Aim: Migraine is known to run in families and has long been considered a strongly heritable disorder. This study sought to evaluate the relationship between age at onset of pediatric migraine and family history of migraine.

Methods: Review of the medical files of the headache clinic of a tertiary pediatric medical center yielded 344 children with migraine for whom details on migraine in family members were available.

Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria.

Background: The primary hyperoxalurias are a group of recessive kidney diseases, characterised by extensive accumulation of calcium oxalate that progressively coalesces into kidney stones. Oxalate overproduction is facilitated by perturbations in the metabolism of glyoxylate, the product of glycolate oxidation, and the immediate precursor of oxalate. Glycolic aciduria associated with hyperoxaluria is regarded as the hallmark of type 1 primary hyperoxaluria.

Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations.

Objective: To describe the phenotypic features of an ethnically homogenous group of patients with Fanconi-Bickel syndrome harboring the p.R310X mutation.

Methods: The study group consisted of eight patients from a single Bedouin family with clinically and molecularly diagnosed Fanconi-Bickel syndrome who had been followed at the same tertiary medical center for 8 years or more.

Glycogen storage disease type III in Israel: presentation and long-term outcome.

Glycogen storage disease type III (GSD III) was found in the past with an unusual frequency among North African Jews in Israel. The aim of this study was to review the long-term clinical course of GSD III's patients in Israel. Relevant pediatric and adult clinical units of all Israeli hospitals were approached to report on their GSD III patients.