Schwartz-Jampel syndrome: evidence of central nervous system dysfunction.

We report four patients with Schwartz-Jampel syndrome showing evidence of central conduction impairment documented by somatosensory evoked potentials. Median nerve somatosensory evoked potential showed normal latencies to Erb's point and N13 in all patients. Interpeak latencies between N13 and N19 were prolonged in five nerves, with complete block in three nerves. Posterior tibial nerve somatosensory evoked potentials were performed in three patients. Peripheral latencies were normal in all patients. Interpeak latencies between lumbar and cervical potentials were prolonged in two patients, with conduction delay between cervical and cortical potentials in five of the six nerves tested. Visually evoked potentials, brainstem auditory evoked potentials, electromyography, and nerve conduction velocity studies were normal in all patients. Parents' median nerve and posterior tibial nerve somatosensory evoked potentials were normal.

Jervell and Lange-Nielsen QT syndrome: a case report from Saudi Arabia.

A family with two of its members having Jervell and Lange-Nielsen syndrome is reported for the first time from Saudi Arabia. A history of syncopal attack in a child with hearing loss and the sudden death of her brother while playing suggested the possibility of the syndrome. Electrocardiogram and full ENT and audiological assessment revealed Jervell and Lange-Nielsen syndrome in the living child. Treatment was given and the condition is now under control.

Reading-induced absence seizures.

Reading epilepsy usually presents with jaw myoclonus and generalized tonic-clonic seizures. We report a 12-year-old girl with absence seizures induced by reading, which were diagnosed by video EEG. An absence seizure with generalized 3-Hz spike-and-wave discharge occurred within 30 seconds of each reading session. Treatment with valproate caused complete seizure control, with therapy successfully discontinued after 2 years.

Non-progressive familial congenital cerebellar hypoplasia.

A syndrome is reported of congenital non-progressive, gradually slightly improving, ataxia in 3 out of 5 male sibs, issues of a first-order consanguineous mating. Additional characteristic features included: moderate microcephaly, generalised muscle weakness and hypotonia, nystagmus, and moderate mental retardation. A pyramidal syndrome of hyperreflexia and Babinski signs, without any spasticity, became manifest in the 2nd or 3rd year of life. In all three, the caudal part of the vermis was absent, the enlarged IVth ventricle opening up via Magendie's foramen into the cisterna magna. The middle and rostral vermian parts as well as the sagittal paravermian parts of the cerebellar hemispheres were hypoplastic. The differential diagnosis of this syndrome is analysed and the developmental pathogenetic mechanisms likely to produce the typifying distribution of aplasia are indicated.

Hemisomatic spasms in children.

We report two children with hemisomatic spasms caused by neoplastic lesions in the region of the ipsilateral cerebellopontine angle. In this condition, seizure misdiagnoses are frequent and EEGs are normal, even ictally. MRI should be performed early to prevent delay of appropriate treatment.

Choroido-cerebral calcification syndrome with retardation.

We present a sibship with a rare syndrome characterized by mental retardation, dense calcification of the lateral ventricular choroid plexus, and increased CSF protein. Neurophysiologic studies yielded nonspecific results, and endocrine studies, including parathormone levels, were normal. Simultaneous measurements of CSF and serum calcium, magnesium, and other electrolytes were normal, but the CSF/serum ratio of phosphate was low, suggesting a possible role in the pathogenesis of this syndrome.

Idiopathic long QT syndrome: asking the right question.

Infants and young children cannot describe symptoms of cardiogenic syncope accurately. If the attention in such cases is focused on the seizure activity that may follow, the patient will be treated inappropriately with anticonvulsants. We report such a presentation in 4 infants and young children (ages 6 to 48 months) with idiopathic long QT syndrome. All patients presented with recurrent seizures. All patients had a corrected QT interval (QTc) > or = 0.44 s and none had deafness. The diagnosis was suspected by careful history-taking which revealed episodes of loss of consciousness before convulsions in all patients. All patients were treated successfully with propranolol and remained free of symptoms during the follow-up period of 1-2 years. Screening the other family members revealed a prolonged QTc in 9 out of 16, and a history of 3 sudden and unexplained deaths in two families.