Raphael Weitz

Successful non‐neurotoxic therapy (without radiation) of a multifocal primary brain lymphoma with a methotrexate, vincristine, and BCNU protocol (DEMOB)

A 3.5‐year‐old boy with a multifocal primary lymphoma of the brain was treated successfully without neurotoxicity with a treatment regimen that did not include radiation. The protocol of Dexacort (dexamethasone), methotrexate, Oncovin (vincristine), and BCNU (carmustine) (DEMOB), which was developed with the use of MTX pharmocokinetic studies, was given over 7.5 months, and resulted in tumor disappearance on computerized tomography scans and marked improvement in clinical status. The patient remains in good health 3 years after diagnosis (March 1985).

Improvement of atypical acute disseminated encephalomyelitis with steroids and intravenous immunoglobulins

Acute disseminated encephalomyelitis is a demyelinating syndrome that occurs infrequently in children. Various treatment modalities, such as plasmapheresis or steroids or intravenous immunoglobulins (IVIG), have been prescribed. The article describes the results of combined IVIG and high-dose steroids given for 3 days in the treatment of a patient with atypical encephalomyelitis. The results suggest that this approach may be more beneficial than the application of either drug alone.

Jitteriness Beyond the Neonatal Period: A Benign Pattern of Movement in Infancy

Jitteriness is a frequent, well-recognized phenomenon in neonates. Its occurrence in early infancy, beyond the neonatal period, is much less documented. Thirty-eight full-term infants who were jittery after 6 weeks of age were followed until the jitteriness disappeared and then reevaluated at the age of 3 years. The jittery movements had already been observed during the neonatal period in 16 babies but not before 6 weeks of age in 22. In 34 infants (89%), 1- and 5-minute Apgar scores were 9 or 10. At the initial examination, a mildly increased muscle tone was found in 12 infants, and hyperactive deep-tendon reflexes were found in 19. The jitteriness resolved at a mean age of 7.2 ± 3.4 months. At 3 years, 92% of the infants had a normal neurodevelopmental examination, while in the rest only minor, transient disturbances were found. This study indicates that jitteriness as a sole presentation in infants beyond the neonatal period is a benign phenomenon, associated with an excellent prognosis. Its etiology is unknown but seems most likely to be related to a maturational process within the central nervous system. (J Child Neurol 1991;6:243-245).

Conversion reaction: management by the paediatrician

Abstract We describe the diagnosis and management of 47 children with conversion reaction seen during the past 9 years in our outpatient department. Some illustrative cases are reported in detail. The study shows that conversion reactions in children can often be accurately diagnosed by detailed history and physical examination. When the diagnosis was made early and presented with certainty, both parental acceptance and the childs recovery were easier, and the need for expensive and unnecessary diagnostic procedures was eliminated. Immediate intervention by the paediatrician prevented perpetuation of the problem, secondary gains and continuing family stress. Most of the patients recovered after a few days without recurrence. The major role of the paediatrician is emphasized. Co-operation between the patients, parents and the paediatrician is important, as is close follow up. Conclusion Paediatricians cope successfully with children with conversion reaction with early diagnosis and immediate intervention.

Aniridia: recent achievements in paediatric practice.

Aniridia is a rare panocular disorder which primarily involves not only the iris, but also the retina, optic nerve, lens and cornea. Visual acuity deteriorates as a result of nystagmus, glaucoma, cataract, corneal opacities and retinal hypoplasia. Aniridia may appear as an isolated disorder, most often familial with autosomal dominance or sporadically in association with at least 12 syndromes. Both familial isolated and Wilms tumour, bilateral sporadic aniridia, genitourinary abnormalities and mental retardation syndrome-associated aniridia have been traced to a mutation of the PAX6 gene on band 11p13. Since genetic diagnosis of this disorder is already possible, counselling affected families should be preceded by karyotype studies and linkage analysis in familial cases of isolated aniridia. In sporadic cases of isolated aniridia or WAGR syndrome, we suggest that PAX6 mutation analysis be employed.

3-METHYLGLUTACONIC ACIDURIA IN THE IRAQI-JEWISH “OPTIC ATROPHY PLUS‘ (COSTEFF) SYNDROME

Eleven new patients of Iraqi‐Jewish origin with bilateral optic atrophy, neurological abnormalities (‘optic atrophy plus’ syndrome) and 3‐methylglutaconic aciduria (type III) are described. Clinical abnormalities in decreasing order of frequency were bilateral optic atrophy, extrapyramidal signs, spasticity, ataxia, dysarthria and cognitive deficit. An association with age was found only for spasticity. Spasticity, extrapyramidal signs and optic atrophy frequently led to major disability, in contrast to ataxia, dysarthria and cognitive deficit. The combined excretion of 3‐methylglutaconic and 3‐methylglutaric acid ranged between 9 and 187mmol/mol creatinine. The primary enzymatic defect possibly may reside in the mitochondrial respiratory chain.

Unilateral hydrocephalus due to obstruction of the foramen of monro: Another complication of intrauterine mumps infection?

Unilateral hydrocephalus due to foramen of Monro-obstruction was diagnosed in a newborn who presented with macrocephaly at birth. The mother had mumps in the second trimester of pregnancy and immunological studies indicated possible intrauterine infection of the baby with mumps virus. His condition deteriorated rapidly, and he developed myoclonic seizures. The possible relationship of intrauterine mumps infection to neonatal neurological complications is discussed.

Methotrexate-Induced Leukoencephalopathy is Treatable with High-Dose Folinic Acid: A Case Report and Analysis of the Literature

An episode of leukoencephalopathy is reported in a 13-year-old girl who, after standard radiotherapy for a posterior fossa medulloblastoma, received 8 treatments with a protocol containing a 4-hour infusion of 500 mg/m2 methotrexate and 12 mg intrathecal methotrexate. The leukoencephalopathy, documented clinically and by CT and EEG, cleared after 2350 mg of leucovorin (citrovorum factor, folinic acid) was given in addition to the 135 mg given as part of the therapy. A review of the literature suggests that leukoencephalopathy may be prevented by high doses of leucovorin and can be treated by high doses, if lower doses were used initially. When high dose leucovorin was not used, residual neurological damage is not unusual.

Imipramine binding to platelets of children with attention deficit disorder with hyperactivity

High-affinity [3H]imipramine binding to platelets was investigated in 11 boys with attention deficit disorder and hyperactivity (ADDH) before and after 28 days of methylphenidate (MPH) treatment, and the results were compared to [3H]imipramine binding parameters (Kd, Bmax) of 10 age-matched normal boys. The binding parameters for imipramine binding sites did not differ between ADDH children and controls. Moreover, the beneficial therapeutic effect of MPH was not accompanied by any alteration in the binding values. This study is consistent with other studies that failed to demonstrate involvement of the serotonergic system in the pathophysiology of ADDH and in the therapeutic effect of MPH.

Benign congenital hypotonia

The clinical features and short-term follow-up of benign congenital hypotonia (BCH) were studied in a group of 43 children. All children were referred for the evaluation of delayed motor performance during the first year of life. The hypotonia was mild in 35 children and moderate in 8. A “sitting-on-air” posture was found in 26 children (60%), and bottom shuffling (scooting) in 8 (19%). Thirty-six children were followed to the end of their third year of life. At this age minor neurological abnormalities could be found in 16 (44%) including hypotonia in 7, clumsy gait in 11 and speech delay in 3. In 30% of the cases there was a family history of delayed motor achievements. However, no significant differences were found between familial and non-familial cases regarding either clinical presentation or residual neurological findings. In view of the similarity in the clinical presentation of different causes of infantile hypotonia, the syndrome of BCH should be recognized. In such cases, because of the expected benign course, invasive diagnostic procedures may be withheld while the child is kept under follow-up, and be considered only in cases without complete recovery.