Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.

Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents. Macrocephaly, a slowly progressive delay in motor development and mild mental deterioration constitute the clinical triad of the disease, showing characteristic age-related onset. The clinical findings outlined remarkably slight functional deterioration despite severe lesions on magnetic resonance imaging (MRI), especially in the initial period. Characteristically, mental function is preserved for years after onset of the motor deficit. The MRI lesions do not reflect the progress of disease. The disease probably has an autosomal recessive mode of inheritance even though no metabolic defect has been detected to date. In a more severe variant of the mentioned disease, there is more progressive and severe neurological dysfunction, including ataxia and spastic quadriparesis, leading to an inability to walk independently after 10 years of age. In mild variants, however, disease severity varies from macrocephaly with near-normal pyschomotor development to mild motor and/or mental dysfunction. Seizures were observed in both types but response to drugs was good. The 12 patients reported here confirm the specific and distinguishing clinical and radiological features of the previously reported 51 cases with this new syndrome, while adding some information regarding identification of the disease.

Coexistence of life threatening chemotherapy related leukoencephalopathy, saggital sinus thrombosis and multiple organ failure in a child with acute lymphoblastic leukemia: an unusual case with clinical recovery.

A nine-year old girl with T cell acute lymphoblastic leukemia (ALL) had acute severe neurologic complications at the end of the remission-induction chemotherapy course. Thirty-six hours following triple intrathecal (IT) therapy and intravenous (IV) administration of L-asparaginase (L-asp), tetraplegia developed and she became unconscious. She had bouts of hypertension and persistent tachycardia unresponsive to digitalis therapy. Magnetic resonance imaging (MRI) showed multiple brain white matter hyperintensities and filling defects in the saggital sinus, suggesting thrombosis. Over the 40 days, in addition to her neurologic compromise she also had transient diabetes mellitus, severe hyperlipidemia, hypoproteinemia and edema, liver and heart failure and staphylococcus aureus sepsis with prolonged bone marrow depression. Despite, coexistence of all these chemotherapy related complications, her neurologic functions and multiple organ failure improved gradually. After a 70 days' period of interruption, chemotherapy was resumed and continued without any further complications. Although, the etiology of her extensive sensitivity to some drugs remains unclear, we believe that it is important to document these unusual events in this child.

Congenital ocular motor apraxia in two siblings.

Two siblings whose features met Cogan's classic description of congenital ocular motor apraxia were examined. There was first-degree consanguinity in the family. Each had an absence of voluntary and optically-induced horizontal eye movements and demonstrated classic head thrusting.

Vitamin A levels of children with measles in Ankara, Turkey.

Recent studies show that vitamin A levels decrease during measles and that vitamin A therapy can improve measles outcome in children in the developing world. Vitamin A levels of children with measles have not been studied before in Turkey. Therefore we measured serum vitamin A levels in 21 children with measles and compared the results with "sick" and "healthy" control groups. The mean vitamin A levels in children with measles were markedly lower than in the "sick" and "healthy" control groups (p: 0.001). Vitamin A levels in children with measles ranged from 1.3 to 32 micrograms/dl; 11 (52%) were vitamin A deficient (< 10 micrograms/dl). This frequency among Turkish children supports evaluation of vitamin A status as a part of acute management of measles in Turkey. Clinicians may wish to consider vitamin A therapy for children with measles according to WHO recommendations.

Erythroblastopenia and leukopenia in the patient with severe herpes zoster treated with intravenous acyclovir.

A seven-year-old girl with transient leukopenia and erythroblastopenia which developed after the administration of acyclovir is presented. Acyclovir infusion was given in a dose of 5 mg/kg/every eight hours. On the third day of therapy the hemoglobin level fell to 9.9 g/dl, the hematocrit was 26%, the white blood cell count 4000 percent/mm3, red blood cells 3.2 million percent/mm3. Bone marrow aspiration showed a decrease in the number of erythoblasts and a relative increase in the number of promyelocytes and myelocytes. Therapy was discontinued on the fifth day, and on the seventh day the findings were normal including the bone marrow aspiration. We could not find any other reason which would cause transient erythroblastopenia and leukopenia in our patient.

[The frequency of group A beta-hemolytic Streptococcus in acute tonsillopharyngitis and therapy with cefadroxil, clavulanic acid-amoxicillin combination and erythromycin in patients unresponsive to procaine penicillin therapy]. / Akut farenjitte A grubu hemolitik Streptokok sikligi, penisilin tedavisi ile basarisiz olgularda sefadroksil, klavulonik asitle kombine amoksisilin ve eritromisin'le alinan sonuçlar.

In January, February and March 1987, the frequency of Group A beta hemolytic streptococcus among 468 patients with acute tonsillopharyngitis who admitted to Dr. Sami Ulus Children's Hospital was % 41. Ten day procaine penicillin therapy was not successful in the % 29.5 patients. Cefadroxil (Duricef), clavulanic acid-amoxicillin combination (Augmentin) and erythromycin were tried in these patients. While the success rate of Duricef therapy was % 55, the results of other drug therapies were not been successful.