Neurofibromatosis type II: a rare neurocutaneous syndrome

Neurocutaneous syndromes are heterogeneous group of disorders with abnormalities of central as well as peripheral nervous system. Neurofibromatosis type II [NF-II] is an autosomal dominant neurocutaneous syndrome rarely diagnosed in pediatric population. Diagnosis is based on clinical history and radioimmaging. We present a 14 years old boy with headache and decreased hearing, who turned to be a case of neurofibromatosis type II

Diagnostic role of EEG in children having unprovoked seizures, experience at the neurophysiology department, The children's hospital, Lahore

Although advances in imaging technology offer ever-increasing diagnostic accuracy, the electroencephalogram [EEG] retains its importance and is the cornerstone for the diagnosis and treatment of epilepsy. A cross-sectional descriptive study was conducted at Neurophysiology Department of The Children's Hospital, Lahore. Our aims were to find out the different types of epilepsies diagnosed on EEG in children referred for interictal EEG with recent clinical diagnosis of epilepsy. Out of 645 children referred for EEG after seizures, 415 [64%] were males and 230 [36%] were females, 21% had their first seizure before one year of age, 54% of them were between the ages of 1-5 years and 46% of them were more than 5 years of age. We found normal interictal EEGs in 54% whereas 46% children had abnormal EEGs. So in addition to supporting the diagnosis of epilepsy, EEG has significant potential to classify epileptic seizures

Myotonia congenita in a brother and sister

Myotonia congenita is a rare channelopathy and carries a good prognosis. Two cases of young siblings are presented detected with difficulty in gait and motor activities. Both had typical hypertrophied body musculature. EMG was diagnostic

Tranverse myelitis: Unusual site of involvement

Transverse myelitis is defined as an acute inflammation of spinal cord leading to abrupt onset of weakness of lower limb. In majority of cases, mid thoracic spine is involved. We present a ten year old girl whose cervical spinal cord was involved which is rare. MRI of spine is the investigation of choice