G. Mundel

A familial syndrome of central nervous system and ocular malformations

A family is reported in which three of seven siblings were affected with an association of severe cerebral, cerebellar and ocular malformations. Brain malformations consisted of lissencephaly and the Dandy‐Walker anomaly; congenital cataracts, retinal dysgenesis and coloboma of the choroid were found in the eyes. The pathogenesis of these developmental anomalies is probably related to abnormal neuron migration and abnormal closure of fetal fissures, occurring at an early stage of embryonic development. The association of these malformations is unique, and may point to a new malformation syndrome, inherited as an autosomal recessive trait.

Mental retardation and congenital malformations associated with a ring chromosome 6.

A boy, in whom a ring chromosome 6 was found, presented with mental retardation and odd facies. He had a small head, bilateral epicanthus, broad nasal bridge, low set prominent ears, short neck and clasped thumbs. The ring chromosome was identified by the ASG banding technique.

High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel.

Spinal muscular atrophy (S.M.A.) type I (Infantile Werdnig ‐ Hoffmann Disease) was found in 4:1,600 (1:400) infants of the Egyptian Karaite community. This group constitutes a representative sample of the Egyptian Karaite community in Israel, which numbers at present somewhat more than 7,000. The community existed as a religious and reproductive isolate for over 10 centuries. The very high gene frequency, 0.05 for the autosomal recessive gene of S.M.A. type I, is probably the result of genetic drift.

A Meckel-like syndrome?

The problem of the major clinical pathological signs required for the diagnosis of the Meckel syndrome is presented. A case showing only one of the three major signs of the syndrome is described. It is concluded that at present some cases showing only one major sign and a combination of minor signs could be interpreted in two alternative ways: 1) That they are cases of the real syndrome with unusually few manifestations. 2) That they are phenocopies or are examples of a Meckel‐like syndrome without an etiological relation to the classical syndrome. Follow‐up of the families and the presence or absence of typical cases of Meckel syndrome among siblings may help in deciding between the above possibilities.

Thin ribs in neonatal myotonic dystrophy.

The recently described thin ribs seen in a neonate suffering from myotonic dystrophy represents a valuable sign for early detection of this condition. Thin ribs were found on chest radiographs of two siblings a short time after birth. This led in retrospect to the diagnosis of neonatal myotonic dystrophy. The diagnosis was confirmed by clinical and electromyographic data of myotonic dystrophy in the mother who was not previously known to have the disease. Both children died at the age of 2 days from respiratory distress. All children of affected mothers should have a chest radiograph soon after birth in order to help in diagnosis and to establish the frequency of this sign.

Ring chromosome 13 syndrome.

A girl in whom a ring chromosome 13 was found, presented with microcephaly, mental retardation and multiple minor malformations. She was born after a full term pregnancy, small for date and with a small head circumference. She underwent craniotomy at the age of 18 months because of premature closure of the metopic sutures. At age 41/2 years, she presented with mental retardation, microcephaly, asymmetrical mongoloid slanting of narrow palpebral fissures, bilateral epicanthic folds, broad and prominent nasal bridge, normal sized ears and open mouth. She had somewhat short second and fifth fingers, with a single crease on the right fifth finger and normal thumbs. This case supports previous reports that a clinically recognizable ring chromosome 13 syndrome can be defined.

Unusual features in familial asphyxiating thoracic dysplasia (Jeune's disease)

Asphyxiating thoracic dysplasia or Jeunes disease is a hereditary condition characterized by typical roentgenologic changes of the ribs, pelvis and extremities. Affected infants have very narrow chests and suffer from respiratory insufficiency which often leads to early death.

Infantile Neuroaxonal Dystrophy

Four cases of infantile neuroaxonal dystrophy (a familial progressive disorder of the central nervous system) are presented with clinical and pathological findings. The clinical picture is characteriz

Superinfection of Chlamydia trachomatis Pneumonia by Staphylococcus aureus

nose drops. The high level of infectivity of the nasopharyngeal secretions as measured by the large numbers of inclusions noted in the first passage, the persistence of irritability and nasal congestion prior to specific treatment, and resolution of symptoms shortly after the initiation of erythromycin therapy, all point strongly to the role of this organism as the cause of the infant’s illness. We believe that ~’. trachoma tis infection should be considered in the differential diagnosis when infants present with nasal stuffiness and obstruction during the first few months of life.

Second Case of an Infantile Motor Neuron Disease

The second case of an unusual motor neuron disease in an infant is described. The disease shows primarily an involvement of motor neurons, less of the proprioceptive and the extrapyramidal systems. Th