We systematically reviewed the files of 51 infants presenting with infantile spasms and hypsarrhythmia in order to study the initial treatment strategies and the long term outcome. 80% of the infants were classified as symptomatic. In the nine participating centres, different treatment protocols were used, but the large majority of the children received vigabatrin as first line treatment. Secon...

Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenotype comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Atypical cases are often known as PEHO-like, and there is an overlap with 'early infantile epileptic encephalopathy'. PEHO is considered to be recessive...

UNLABELLED Management of West syndrome is unsatisfactory. In our clinic we observed that a significant proportion of patients respond to usual dose of valproate. OBJECTIVE To prospectively assess the efficacy of valproate in controlling infantile spasms in West syndrome. METHODS Consecutive patients presenting with West syndrome to the Pediatric Neurology Clinic or general outpatient depart...

PURPOSE To investigate the informative value of EEG and cranial magnetic resonance imaging (cMRI) in the prognosis of infantile spasms (ISs); 86 patients with ISs were included in this study. METHODS All cases had epileptic spasms, psychomotor retardation, and hypsarrhythmia in at least one of their EEGs. cMRIs and laboratory tests necessary for etiologic diagnosis were completed in all cases...

The PEHO syndrome (progressive encephalopathy with brain, facial and peripheral edema, hypsarrhythmia and optic atrophy) is a very rare autosomal recessive disorder with progressive encephalopathy. For diagnosis and therapy, many patients may require deep sedation or even general anesthesia. There are no previous reports on the perioperative management in PEHO-patients. Distinct obstacles have ...

The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a recently recognised disorder of unknown biochemical background. Diagnostic features have been found in neuroradiological and neuropathological studies, which show characteristic severe cerebellar atrophy. In combined neuroradiological and ophthalmological studies, 10 out of 21 possible PEHO patien...

Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis defects (PBDs); both are autosomal recessively inherited. The firstborn son of unrelated parents, who both had sensorineural deafness and RP diagnosed as USH, presented with sensorineural deafness, RP, dysmorphism, developmental delay, hepatome...

Infantile spasm is an age-related refractory epilepsy. Topiramate is a new anticonvulsant with multiple mechanisms of action, and it may be effective for treating pediatric epilepsies. To evaluate the efficacy and tolerability of first-line topiramate treatment for infantile spasm, 20 patients received topiramate monotherapy during this study. They were treated with an initial dose of 1mg/kg/da...

Correspondence: Chang-Yong Tsao 700 Children’s Dr Columbus, Ohio 43205, USA Tel +1 614-722-4691 Fax +1 614-722-4633 email changyong.tsao@ nationwidechildrens.org Abstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic epileptic spasms, and specific electroencephalographic patterns (interictal hypsarrhythmia and ictal volt...

Clinical picture of neuronal ceroid lipofuscinosis with late infantile onset (LINCL) is characterized by myoclonic seizures and psychomotor regression. We present a case of classic LINCL and reduced cerebrospinal fluid (CSF) pterins in a girl of normal psychomotor development and born to non-consanguineous parents. She first presented with febrile seizures at the age of four. At that time, brai...