Introduction Biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. We report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. With a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. Rapid treatment was life-savin...

OBJECTIVE To determine the clinical and EEG findings in children with infantile spasms at their initial presentation to the Neurophysiology Department, Children's Hospital, Lahore, Pakistan. STUDY DESIGN Observational study. PLACE AND DURATION OF STUDY The Neurophysiology Department, Children's Hospital, Lahore, Pakistan, from January 2008 to December 2010. METHODOLOGY Children aged < 24 ...

introduction biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. we report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. with a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. rapid treatment was life-savin...

This article describes a case involving the resolution of hypsarrhythmia, a generalized abnormal EEG pattern, following focal resection of a cortical tuber in a patient with tuberous sclerosis.

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...

PURPOSE OF REVIEW This article reviews the most significant advances in the field of infantile spasm during the past year, with emphasis on best practise for treatment, and on some new etiological genetic and metabolic causes for the spasms, and new advances in the knowledge of tuberous sclerosis. RECENT FINDINGS Up-to-date information comparing corticotrophin, oral steroids and vigabatrin sh...