Emire Özdirim

ACUTE DISSEMINATED ENCEPHALOMYELITIS IN CHILDHOOD : REPORT OF 10 CASES

We report 10 children with the diagnosis of acute disseminated encephalomyelitis. Diagnosis was based on clinical and radiologic findings, and after acute encephalitis was excluded by negative culture and antibody results. The most common presenting symptom was ataxia, followed by optic neuropathy, cranial nerve palsy, convulsions, motor dysfunction, and loss of consciousness. Brain magnetic resonance imaging showing bilateral symmetrical hyper-intense lesions of the same age in brain stem, subcortical white matter, thalamus, basal ganglia, or cerebellum was the mainstay of the diagnosis. The presence of a preceding event (either an infection or vaccination) was present in 8 of 10 patients. Brain computed tomographic scans were abnormal in 3 of 10, and electroencephalogram was normal in all patients. High-dose corticosteroids were given to six patients, one received low-dose steroids, and the other three had symptomatic follow-up. Those who relapsed were mainly from the symptomatic follow-up group. Only one patient (the youngest) receiving high-dose methylprednisolone relapsed. Therefore, early high-dose steroid treatment seems to be the most effective treatment in acute disseminated encephalomyelitis and can prevent relapses. (J Child Neurol 1999;14:198-201).

Cockayne syndrome: Review of 25 cases

Clinical and laboratory findings of 25 patients with classical Cockayne syndrome (CS) are reviewed. A history of consanguinity was present in 21 patients, and 15 patients had at least 1 affected sibling. Apart from the cardinal features of dwarfism, microcephaly, and mental retardation, the most consistent clinical features included photosensitivity (84%), gait disturbances (84%), progeroid appearance (84%), and ocular abnormalities (88%). The most consistent laboratory findings comprised abnormal nerve conduction (slowed conduction in 13 of the 16 cases with an ENMG), and an abnormal brainstem auditory evoked response (BAER) and/or audiometry (abnormal in 13 of the 17 cases in whom either one of them were available). Cerebral atrophy and calcification of the basal ganglia were the next more common laboratory findings. Clinical criteria are useful in most instances in the diagnosis of CS. In patients in whom the clinical features are controversial for a diagnosis of Cockayne syndrome, studies directed to disorders of myelination involving both peripheral and central nervous systems in conjunction with audiometry may aid in the diagnosis.

Myasthenia gravis in childhood

Clinical features, serum acetylcholine receptor antibody (AChRAb) titres and course were reviewed in a series of 25 congenital (CMG) and 30 juvenile (JMG) myasthenia gravis cases to recognize characteristics of childhood‐onset myasthenia and its subgroups. The initial symptom for CMG is ptosis accompanied or followed by generalized weakness; myasthenic crises do not occur and spontaneous remissions are rare. In JMG, the distribution of weakness remains the same, but the severity fluctuates: spontaneous remissions (6 patients) and myasthenic crises (10 patients) are observed. Good response to anticholinesterase drugs is slightly more frequent in JMG (62 versus 41 %). AChRAbs were present in 9/26 JMG tested, girls with onset after 11 years being more likely to be Ab‐positive. Since patients with autoimmune myasthenia and a young age of onset are often seronegative, clinical features such as changing distribution of weakness, fluctuating severity, or response to treatment might be considered as supportive criteria for differentiating JMG from CMG.

3,4-Diaminopyridine in Childhood Myasthenia: Double-Blind, Placebo-Controlled Trial:

Eleven patients with congenital and five with juvenile myasthenia gravis, aged 5 to 24 years, were given 3,4-diaminopyridine in a double-blind, placebo-controlled, crossover study. Clinical improvement was observed in 5 of 11 congenital myasthenia patients, and placebo effect, in 3 of 11. Juvenile myasthenia patients did not respond. Single-fiber electromyographic studies did not reveal any changes correlating with the clinical status of the patient. This study demonstrates the importance of double-blind and placebo-controlled studies to determine the effect of 3,4-diaminopyridine in congenital myasthenia. This drug may have different effects on various presynaptic and postsynaptic defects of neuromuscular transmission resulting in congenital myasthenia syndromes. (J Child Neurol 1996;11:458-461).

Cell mediated immunity in patients with subacute sclerosing panencephalitis

Cell mediated immunity was assessed on the basis of total lymphocytes (TL), total T lymphocytes (TTL) counts, delayed skin test responses and in vitro leucocyte migration inhibition test (LIF) production in 25 patients with SSPE, classified according to the clinical stages of the disease. The patients in stage I of the disease did not show any defect in cellular immunity while the patients in stage II showed decreased TL and TTL counts, more negative skin test responses to PHA, SKSD and PPD, and unresponsiveness to SKSD of LIF production. When the patient group was evaluated as a whole, only the TL counts and the skin test responses against SKSD differed from those in the controls. These results suggest that the defects in cellular immunity demonstrated in the patients with SSPE may be due to SSPE or the measles virus itself rather than to a genetic factor predisposing patients to SSPE.

Vogt-Koyanagi-Harada syndrome in siblings (with a brief review of the literature)

We report a brother and a sister with Vogt-Koyanagi-Harada syndrome. The girl had all the manifestations of this condition; her brother was less severely affected. Both showed mental and growth retardation. The literature on this syndrome is reviewed.