Solute carrier family 19 (thiamine transporter), member 3 (SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to ...

SUMMARY Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal signs, without facial dysmorphisms and organomegaly. Neuroimaging findings have been reported in only a few cases. Here we report on predominant globus pallidus MR signal-intensity abnormalities in 2 patients with the late infantile...

OBJECTIVE To document the resolution of oscillatory head movements following surgical realignment of the eyes in children with infantile esotropia and nystagmus. METHOD Retrospective review of 3 children who had infantile esotropia, nystagmus, and unexplained head shaking or head nodding. RESULTS Strabismus surgery restored ocular alignment and produced resolution of the head shaking in all...

Background: Infantile hemangiomas (IH) are the most prevalent benign tumors in children, predominantly girls. Most IH cases do not require treatment due to spontaneous involution, but 10% of early size, location, and complications. Purpose: This study tried define profile, clinical aspects, therapy Dr. Zainoel Abidin General Hospital, Banda Aceh. Methods: A descriptive approach using a retrospe...

OBJECTIVE To investigate the efficacy of endoscopic third ventriculostomy (ETV) for infantile hydrocephalus. METHODS Retrospectively reviewed the 17 infantile hydrocephalus cases who were treated with ETV between July 2009 and June 2013. The study includes 17 patients (4 Han and 13 Hui) between the ages of 51 and 337 days. Five cases with encephalitis history and 2 cases with cerebral hemorrh...

OBJECTIVE To compare the effectiveness of 2 novel antiepileptic drugs, topiramate and levetiracetam, as a second line treatment for infantile spasm when oral steroids fail. METHODS Forty infants under 2 years with clinically- and EEG-proven infantile spasms that did not respond to prednisone (2mg/kg/day in 2 divided doses) were recruited and randomized into 2 groups. They were randomly assign...

The voltage-gated Kv2.1 potassium channel encoded by KCNB1 produces the major delayed rectifier potassium current in pyramidal neurons. Recently, de novo heterozygous missense KCNB1 mutations have been identified in three patients with epileptic encephalopathy and a patient with neurodevelopmental disorder. However, the frequency of KCNB1 mutations in infantile epileptic patients and their effe...

We report the case of an 18-month-old child with infantile spasms and a hypsarrhythmic electroencephalogram (EEG) pattern associated with a porencephalic cyst. Surgical removal of the cyst and its surrounding tissue was performed following failure of medical therapy. Postoperatively, the patient has been free of infantile spasms for 12 months and the EEG has normalized. He has been maintained o...

PURPOSE To compare early radiologic findings in three clinically similar progressive encephalopathies of childhood. METHODS Brain CT and/or MR studies were done in 57 children 3 to 36 months of age: 16 with infantile neuronal ceroid lipofuscinosis, 5 with Rett syndrome, 6 with Krabbe disease, and 30 control subjects with normal neurologic status. In addition, previous descriptions in the lite...

Aim To evaluate the clinical effectiveness of combined oral propranolol with intralesional injection of triamcinolone acetonide in the treatment of infantile periorbital capillary hemangioma. Patients and Methods This prospective interventional study included children diagnosed with periocular infantile hemangiomas in the proliferative phase with vision-threatening lesions. The children prese...