Biotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its are nervous system and skin manifestations. A 15-month-old patient who was diagnosed Li-Campeau syndrome, also BTD his clinic rapidly improved biotin treatment. With the awareness of different clinical presentations deficiency, patients presenting raising suspicion t...

PURPOSE To examine the characteristics of epilepsy in children with neurometabolic disorders to reveal co morbidities and optimal treatment. METHODS We retrospectively reviewed the files of children diagnosed with a neurometabolic disorder and treated at Jordan University Hospital between 2001 and 2012. We examined the incidence, age at onset, clinical characteristics, and medical control of ...

how to cite this article: karimzadeh p. approach to neurometabolic diseases from a pediatric neurological point of view. iran j child neurol. 2015 winter;9(1): 1-16.   abstract objective neurometabolic disorders are an important group of diseases that mostly are presented in newborns and infants. neurological manifestations are the prominent signs and symptoms in this group of diseases. seizure...

OBJECTIVE Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency. MATERIALS & METHODS Eighteen patients diagnosed as metachromatic leukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran between 2010 and 2014 were included in our study. The disorder was confirm...

Autism is defined by 3 main criteria: disturbance of reciprocal social interaction, disturbance of communication (including language comprehension and spoken language) and disturbance of normal variation in behaviour and imaginative activities; an onset before age 36 months is also required. The neuropediatric contribution to autism is dominated by the search for an underlying organic etiology,...

OBJECTIVE We aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones. MATERIALS & METHODS The patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between...

We describe a new creatine metabolism disorder in 2 young sisters who suffered from mental retardation and severe language delay. Blood examination, investigation of the most common neurometabolic disorders, and brain magnetic resonance imaging were normal. Diagnosis was established only by means of in vivo proton magnetic resonance spectroscopy, which disclosed generalized depletion of creatin...

nieman-pick disease type c is a rare, autosomal recessive, neurometabolic disorder associated with the accumulation of unesterified cholesterol in lysosomes and late endosomes. because of multiple organ involvement and wide range of clinical manifestations, these patients will demand multiple diagnostic and therapeutic procedures requiring anesthesia. sincepathogenesis of this disease is still ...

Neurometabolic diseases diagnosed by cerebrospinal fluid (CSF) examination are GLUT1 deficiency, serine-deficiency syndromes, glycine encephalopathy, cerebral folate deficiency, neonatal vitamin-responsive epileptic encephalopathies, disorders of monoamine metabolism, and y-amino butyric acid (GABA) metabolism. We retrospectively analyzed and compared the demographic, clinical, laboratory, and ...