Complications of trichobezoars: a 30-year experience.

We have reported the case of a mildly retarded woman in whom an obsessive-compulsive disorder of hair eating (trichophagia) had begun between 2 and 3 years of age. Over the next 30 years, multiple complications of trichophagia included trichobezoars, malnutrition, intestinal obstruction, and ulceration with bleeding. One of the bouts of intestinal obstruction was associated with the superior mesenteric artery blocking the duodenum. This complication has not been reported previously in this disorder. The patient's trichotillomania (hair pulling) was treated with psychotherapy, behavior modification, and various medications, without success. The tricyclic antidepressant clomipramine (Anafranil) may be of benefit in such cases.

Hereditary lymphedema and distichiasis.

Two patients with lymphedema-distichiasis syndrome illustrate that both Milroy's disease and late-onset hereditary lymphedema are sometimes associated with distichiasis. It is important for ophthalmologists to be aware of the lymphedema-distichiasis syndrome because of its ophthalmic manifestations and the associated systemic abnormalities that can be potentially life threatening.

Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis.

We report on a 13-yr-old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile (MCPP) analysis. The prominent manifestations (present in greater than 75% of cases) of this condition include nasal and maxillary hypoplasia, peripheral dysostosis, first ray hyperplasia of the foot, acromesomelic brachymelia, decreased interpedicular distance, advanced skeletal maturation and mental retardation. Results of chromosome studies have been normal. An autosomal dominant inheritance pattern was reported in two families. Maternal and paternal ages were 2 and 3 yr, respectively, above the average age of the general parent population, which suggests that advanced parental age may be a factor in the cause of this condition. A characteristically abnormal MCPP was found in our patient and in 16 additional cases studied from the literature. A mean MCPP was developed for the syndrome. MCPP analysis may be useful as a diagnostic tool in patients suspected to have acrodysostosis.

Metacarpophalangeal pattern profile analysis in Robinow syndrome.

We analyzed the metacarpophalangeal pattern profile (MCPP) on 15 individuals with Robinow syndrome and calculated a mean Robinow syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in the Robinow syndrome. Discriminant analysis of individuals with Robinow syndrome compared with a sample of normal individuals produces a function of 6 MCPP variable that may provide a useful tool for diagnosis.

Sporadic congenital Caffey's disease.

Caffey's disease is an inflammatory skeletal disorder of infancy manifested clinically by fever, soft-tissue swelling, and constitutional signs with radiographic evidence of periosteal new bone formation. Although prevalent between 1940 and 1960, nonfamilial cases have become extraordinarily rare. The authors report the sporadic occurrence of congenital Caffey's disease in a premature infant and note an interesting association with maternal herpes zoster early during gestation. The etiology of this mysterious disease is likely to remain elusive as new cases become scarce.

Robinow syndrome: report of two patients and review of literature.

We report two patients with Robinow or fetal face syndrome. We present a thirteen year follow-up on three previously published cases and a review of 32 cases in the literature. The cardinal features of this condition include mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned broad nose with anteverted nares, long philtrum, small chin, brachydactyly, hypoplastic genitalia and a normal karyotype. Development delay and mental retardation was noted in 18% of the reported cases. Early death was identified in about 10% of the cases. Genetic heterogeneity is suggested with autosomal dominant inheritance reported in 8 individuals from 3 families and autosomal recessive inheritance in 8 siblings from 4 families although no clinical differences were identified among those individuals with different inheritance patterns. Male to male transmission was reported in one family. Parental age does not appear to be a factor in the cause of this syndrome.

The Melkersson-Rosenthal syndrome.

The Melkersson-Rosenthal syndrome consists of recurrent swelling of the lip or face, intermittent facial palsy, and fissured tongue. Lengthy intervals may occur between those various manifestations. Four white female patients with this disorder are described. First identified in Europe, the condition is now increasingly recognized in this country. The cause is unknown. The pathology, clinical features, and management of this unusual disorder are discussed.

Chorea associated with the use of oral contraceptives: report of a case and review of the literature.

A 17-year-old black female developed Sydenham's chorea 8 weeks after inaugurating the daily use of an oral contraceptive. Two weeks after she stopped the oral contraceptive, her signs and symptoms of chorea disappeared. Other causes of chorea were eliminated by various lab tests and a 4-year follow-up on the patient. Phenytoin sodium and methadone are cited as two other medications that have been associated with drug-induced chorea. Some theories are presented about altered dopaminergic sensitivity by various drugs that could produce choreic movements. The literature of chorea associated with oral contraceptives is reviewed. The pediatrician is reminded to consider side effects of oral contraceptives when dealing with a sick teenager.

PIP: This paper reports on the case of a 17-year-old black, healthy girl who developed Sydenham chorea 8 weeks after beginning oral contraception (OC). All laboratory tests being normal, the patient was told to discontinue OC use; 2 weeks later the chorea symptoms disappeared completely and did not return. Chorea is an extremely rare neurological condition associated with OC use; since 1966 there have been only 27 reported cases; in all cases the symptoms disappeared within 1 week-5 months after termination of contraceptive use. It is interesting to note that in 10 out of the 27 reported cases the patients used a preparation containing mestranol. Phenytoin sodium and methadone are cited in the literature as drugs able to induce chorea. Some authors suggest that it is the estrogen component of OC that is responsible for chorea; others suggest an increased dopamine receptor sensitivity. When treating chorea it is important to differentiate drug-induced movement disorders from structural neurologic dysfunctions.

Vaccine-associated poliomyelitis in a child with sex-linked agammaglobulinemia.

Paralytic poliomyelitis was observed in a child with a sex-linked defect in immunoglobulin synthesis. Evidence is presented that this was secondary to administration of oral, live poliovaccine. The demonstration of a familial sex-linked gammaglobulin deficiency and the failure to document a defect in cell-mediated immunity in this child extends the risk of vaccine associated poliomyelitis to virtually all forms of immunodeficiency. The critical host factors in the pathogenesis of poliovirus vaccine infection and in particular its unfavorable outcome appear to include either a deficiency in the humoral (B cell) system or in the cell-mediated (T cell) system.

Heat stroke in infancy.

We observed a 16-month-old infant with residual brain damage following a heat stroke from being left in a parked automobile. In contrast with adults, in whom heat stroke usually follows strenuous exercise, the condition in infants usually results from excessive environmental temperature and/or dehydration. Early recognition of the illness is imperative. Three cardinal freatures are hot, dry skin, central nervous system disturbance, and hyperpyrexia. Immediate treatment should be aimed at improving circulation with volume expanders and rapid cooling. Other supportive measures may be necessary to control seizures, renal failure, hematologic abnormalities, or hepatic involvement.

Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.

Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of vomiting, anorexia, weight loss, weakness, and hypotonia. He failed to thrive and had generalized seizures. He had propionic acidemia and hyperglycinemia; these are the manifestations of the ketotic hyperglycinemia syndrome. However, ketonuria was not a consistent part of his clinical picture, and he had at least two episodes of acute overwhelming illness, the latter one fatal, in which ketones were never found in the urine. Large amounts of pyrrolidone carboxylic acid were found in body fluids.