Bernard Weisskopf

Behavioral correlates in the happy puppet syndrome: A characteristic profile?

Nine children with the ‘happy puppet’ syndrome are presented here and 19 previously reported cases are reviewed. A characteristic psychological profile is suggested by the childrens ‘unfocused’ activities and inconsistent responsiveness to their surroundings. Behavioral characteristics are atypical for mental age and do not appear to represent unusual seizure equivalents. Recognition of such non‐adaptive behavior may be of importance n selecting specific treatment and management techniques to modify the characteristics of this syndrome at an early age.

Median Cleft Face Syndrome

THE DISTANCE BETWEEN the eyes may be too great, hypertelorism, or too small, hypotelorism. Hypoteloric patients can be arranged into a series of diagnostic facies, depending on other median anomalies such as a proboscis, flat nose, and median cleft lip.25 These facies reliably predict that the brain has failed to divide into cerebral hemispheres and that the patient has no potential for useful psychomotor development or survival. This report describes the median facial defects which occur with hypertelorism, their differential diagnosis, and what they predict about the patient’s brain. In 1924, Greig42 stated: “The . . . deformity for which I propose the name ocular hypertelorism . . . is the great breadth between the eyes. Hypertelorism . . . preceded by the adjective ocular, accurately, concisely, and suggestively describes the salient and constant feature. . . . The eyes may be far apart in cases of frontal meningocele or encephalocele, or in cases of congenital facial or nasal cleft, but the ocular far-apartness is then subsidiary to the tumor or to the still more hideous defect.” Subsequent authors disagree in delimiting hypertelorism. Some authors include the cleft facies excluded by Greig, and, in fact, Greig’s first patient had a suggestion of a cleft nose, at least to those who saw her before her face had normalized during maturati0n.~,89 Other authors exclude patients whose widely spaced eyes occur in syndromes such as Crouzon’s mechanism. Then, affected patients may be classified by the constellation of clinical features they display, whatever the features. Detection of true hypertelorism has proved difficult, since illusory hypertelorism is caused by many anomalies: a flat nasal bridge, epicanthal folds, external strabismus, widely spaced eyebrows, blepharophimosis, and increased distance between the inner canthi. Two or more of these anomalies considerably enhance the illusion, as shown by Down’s syndrome, in which some authors have stated that hypertelorism is characteristic.87 The actual interocular and interorbital distances in Down’s syndrome are ~ m a 1 1 , ~ ~ , 5 ~ and the patient may even have trigonocephaly, a skull malformation in which orbital hypotelorism is virtually constant.23 In Down’s syndrome the hypertelorism is illusory because of the flat forehead, flat nasal bridge, and epicanthal folds. The interorbital distance is similarly confused in Turner-Bonnevie-Ullrich syndrome, since some authors report hypertelorism64 and others, hypotelorism.48 The essence of the problem is that, in patients with ocular malformations, the location of the medial canthi varies considerably in relation to the interpupillary and interorbital distances. MustardC70,71 introduced the term “telecanthus” to describe any condition in which the distance between the medial canthi is increased (Fig. 1) . If the “far-apartness” of the medial canthi results solely from disease, where different etiogenic mechanisms are postulated. Etiogenic classifications of hyFrom the Department of Neurology, Indiana University pertelorism invite disagreement because they Medical Center, Indianapolis invoke specu~ations which exceed factual The study was supported by a Special Fellowship (NB18408) from the National Institute of Neurological Disknowledge of teratologic mechanisms. An aleases and Blindness. ternative approach is to regard hypertelorism Dr. DeMyer’s address is professor of Neurology, Indiana University Medical Center, 1100 West Michigan Street, solely as an anatomic deviation, regardless of Indianapolis, Indiana 46204.

Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15p+;9q−) in three generations

ner canthal and outer orbital dimensions, J. PEDIATR. 74: 465, 1969. 3. Pelz, L.: The intermamillary index in children, Hum. Hered. 22: 204, 1972. 4. Chen, H., Espiritu, C., Casquejo, C., and Wolley, P. V., Jr.: 5. Studies on internipple distance in children (abstract), J. PEDIATR. 83: 158, 1973. Collins, E.: The illusion of widely spaced nipples in the Noonan and the Turner syndromes, J. PEDIATR. 831 557, 1973.

Methylphenidate-induced Delusional Disorder in A Child With Attention Deficit Disorder With Hyperactivity

ABSTRACT A 6-year-old child with an Attention Deficit Disorder with Hyperactivity developed a florid psychotic disturbance in conjunction with methylphenidate therapy. The childs presentation was highly unusual in that delusional thinking was a predominant feature. This case study is considered within the context of other reported instances of childrens psychotic reactions to stimulant-induced medications. It is suggested that there is a spectrum of stimulant-induced psychoses in children that parallels well-known signs of stimulant intoxication in general.

Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency

Erythrocyte assays for hypoxanthine guanine phosphoribosyltransferase (HGPRT) activity performed on two male half-siblings with hyperuricemia, produced results consistent with classic Lesch-Nyhan syndrome. Due to the absence of neurologic abnormalities, cognitive deficits, or self-mutilation, HGPRT activity was measured by intact fibroblast assay which revealed partial enzyme deficiency. The presence of an unstable mutant enzyme may have led to the discrepancy between the erythrocyte and fibroblast studies. This discrepancy emphasizes the difficulty in assaying this enzyme solely utilizing red blood cell studies to determine a patients course. In order to provide an accurate prognosis and relevant genetic counseling, measurement of this enzyme utilizing intact fibroblasts is critical after establishing a diagnosis of HGPRT deficiency in a hyperuricemic male lacking typical clinical manifestations of Lesch-Nyhan syndrome, but having enzyme activity of erythrocytes consistent with the diagnosis.

Townes Syndrome A Distinct Multiple Malformation Syndrome Resembling VACTERL Association

An 8-year-old male is presented with clinical findings of Townes syndrome in an otherwise unaffected family. Additional abnormalities possibly representing low frequency associations of this autosomal dominant multiple malformation syndrome included a cardiac defect and hypospadias. Similarities exist between Townes syndrome and VACTERL association, which is generally regarded to be sporadic in nature. Recognition of Townes syndrome as a distinct entity is critical for implementing appropriate management in early childhood, including amplification of hearing impairments. Variable expressivity may occur in this disorder. Careful evaluation must be made, therefore, of the parents of an affected infant with an apparent sporadic case, in order to provide the couple with an accurate recurrence risk at genetic counseling.

Cognition in Cerebral Gigantism: Are the Estimates of Mental Retardation Too High?

The psychological findings on 10 children with cerebral gigantism are reviewed. Infants with cerebral gigantism showed a consistent pattern of psychomotor delay. Preschool age children demonstrated signs of a primary language disorder, and school-age patients had learning disabilities. The incidence of mental retardation was significantly lower than previously reported in the literature. The possibility that some children with cerebral gigantism can be easily misdiagnosed as mentally retarded is discussed.

Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation.

A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature. This child, in addition to the above, has livedo reticularis and microcephaly. He was of normal birthweight and, therefore, does not come into the syndrome of microcephaly, snub nose, livedo reticularis, and low birthweight dwarfism. Further information on Yq- should be obtained to ascertain if consistent patterns of abnormalities exist.

47, XY, t(9p+;11q+) in a male infant with multiple malformations

A case is presented of a male Caucasian child with the genetic constitution 47, XY, t(9p + llq+) without mosaicism. Similarities to the 9p+ syndrome are noted and findings which may be due to additional llq material are discussed. Unusual findings include partial absence of the corpus callosum and enlarged lateral and fourth ventricles.

Familial occurrence of Bell's palsy

Abstract A case of familial Bells palsy is presented to further supplement previous limited reports. A genetic predisposition appears to be functioning in some instances of Bells palsy. The present case suggests an irregular autosomal dominant mode of inheritance.