OBJECTIVE Infantile spasms is diagnosed late even by expert pediatricians. Late diagnosis (later than 3 weeks) can have a negative effect on the long-term prognosis. We aimed to investigate infantile spasms treated with intravenous methylprednisolone pulse. MATERIALS & METHODS In this case series study, 20 infants with infantile spasms in 17-Shahrivar Hospital, Rasht, Iran were enrolled. Drug...

Objective To describe electroclinical features and outcome of 6 patients harboring KCNB1 mutations. Methods Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel. Results The mean age at seizure onset was 11 months. The mean follow-up of 11.3 years documented that 4 patients following an infantile phase of frequent se...

OBJECTIVE To describe subdural fluid collections on magnetic resonance imaging as part of the natural history of infantile neuronal ceroid lipofuscinosis. DESIGN Case series. SETTING Program on Developmental Endocrinology and Genetics, The Clinical Center, National Institutes of Health, Bethesda, Maryland. PATIENTS Patients with infantile neuronal ceroid lipofuscinosis with subdural fluid...

Infantile spasms are a severe epileptic encephalopathy with a variety of etiologies that occur in infancy and early childhood. Subjects with infantile spasms are at a higher risk for evolving into intractable epileptic spasms, tending to be refractory to conventional antiepileptic drugs. Genetic polymorphisms of the P-glycoprotein-encoding gene ABCB1 are suspected to be associated with pharmaco...

BACKGROUND The use of adrenocorticotrophic hormone (ACTH) and prednisolone in the management of infantile spasms has been well established, but is associated with significant morbidity and cannot be used as long-term medication. Since the introduction of vigabatrin, results have been promising with suggestions currently that it should be used as first-line management of infantile spasms. AIM ...

OBJECTIVE We aim to present our experience with infantile Pompe disease with focus on the impact of availability of treatment on awareness, diagnosis, and management of such patients. METHOD Case - review study of patients diagnosed with infantile Pompe disease and literature search. RESULTS We identified five cases of infantile Pompe disease. The first was diagnosed by muscle biopsy; all o...

Introduction Enzyme replacement therapy (ERT) with Myozyme has significantly improved the prospect for patients with classic infantile Pompe disease. Yet, about 50% of patients still do not survive ventilator-free beyond 2.5 years. In the present study we compared the safety and efficacy of treatment with 40 mg/kg/week to that of 20 mg/kg/ every other week (eow) in 10 infantile patients to dete...

In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...

PURPOSE To elucidate the genetic or environmental background for clinical features in the three major types of comitant strabismus. METHODS Interview based on a questionnaire asking background factors such as family history of strabismus and abnormalities in pregnancy and delivery was conducted with 101 consecutive patients with infantile esotropia (5-180 months of age), 83 with accommodative...

BACKGROUND Infantile hemangioma is the most common benign, self-limiting tumour of childhood. Treatment is reserved for hemangiomas that obstruct vital structures or cause significant disfigurement. Traditionally, corticosteroids have been the medical treatment of choice. Since 2008, however, propranolol has been rapidly adopted as an effective pharmacological treatment for infantile hemangioma...