A 12-year-old girl with fulminant subacute sclerosing panencephalitis (SSPE) without myoclonic jerk and periodic EEG complexes is reported. She presented with blurred vision, fell into a coma after 2 weeks and died within 4 months. Magnetic resonance image (MRI) disclosed high intensity lesions in the lateral geniculate bodies, when the patient initially complained of blurred vision. Reviewing the cases of fulminant SSPE in the literature, more than half of the patients showed blurred vision or visual agnosia as an initial symptom. Most of those patients were female and rapidly deteriorated to a comatose state within 2 weeks. Based on the MRI study of the present patient, we speculate that the initial visual impairment in such patients can be attributed to the involvement of the lateral geniculate body.

Child↗

PubMedDate not supplied

Early onset distal muscular dystrophy.

A 14-year-old Chinese boy, who first became aware of muscle weakness in the lower limbs at 6 years of age, had progressive distal muscle weakness and atrophy, predominantly in the lower leg muscles. He exhibited reduced ankle dorsiflexion and tended to walk on his toes, showing preferential anterior tibial muscle involvement. Laboratory examination revealed a moderately elevated serum creatine kinase level of 905 IU/l. Computed tomographic scanning of muscle disclosed low density areas in the lower legs. A muscle biopsy specimen from the biceps brachii revealed mild dystrophic changes. We made a diagnosis of distal muscular dystrophy based on these findings, but could not classify it as one of the previously reported forms. The symptoms mimicked those of tibial muscular dystrophy, though the onset of the disease is far earlier than the previously described ones of distal muscular dystrophies. It remains unknown whether this patient has a new type of distal muscular dystrophy, or a variant form of the Miyoshi type or tibial muscular dystrophy.

Adolescent↗

PubMedDate not supplied

Duane retraction syndrome associated with Chiari I malformation.

A 13-year-old girl who had Duane retraction syndrome associated with Chiari I malformation is reported. Neuro-ophthalmologic examination revealed severe limitation of abduction of the left eye, as well as narrowing of the palpebral fissure and retraction of the globe on adduction. Electro-oculography of the affected eye revealed decreased saccadic velocity on attempted abduction and adduction. Midsagittal magnetic resonance imaging demonstrated cerebellar tonsillar herniation to 6 mm below a line from the basion to opisthion. Taking into consideration the relative rarity of the two disorders, the association may not be coincidental. Magnetic resonance imaging of the posterior fossa is recommended in Duane retraction syndrome.

Adolescent↗

PubMedDate not supplied

Seizures with clonazepam: discontinuation and suggestions for safe discontinuation rates in children.

Clinical characteristics of clonazepam (CZP) discontinuation seizures were clarified from 17 patients who developed seizure exacerbation after rapid discontinuation, including abrupt discontinuation, reduction, or replacement with nitrazepam (NZP). Safe discontinuation rates of CZP were estimated by comparing these patients with 23 patients without CZP discontinuation seizures. The seizures consisted of status epilepticus or frequent attacks of generalized tonic-clonic seizures (GTC) or non-GTC, and the first attack of GTC. Incidence did not differ significantly between CZP-effective cases and CZP-ineffective cases at discontinuation. The reasons for abrupt discontinuation included adverse effects, insufficient efficacy, difficulty in taking CZP owing to pneumonia, or carelessness of the doctors or the families. Seizure exacerbation occurred 1-6 days after CZP discontinuation. Most of the problems improved with readministration of the original or smaller dosages of CZP or of NZP in an amount threefold or more greater than the original CZP dose. Safe discontinuation rates were estimated to be < or = 0.04 mg/kg for abrupt discontinuation, < or = 0.04 mg/kg/week for reduction, and replacement with NZP of 2.5 or more times the original amount of CZP. These safe discontinuation rates were prospectively confirmed by 84 cases of CZP discontinuation in 54 other patients, and no seizure exacerbation occurred with these discontinuation rates.

Acute Disease↗