Central nervous system malformations in Mohr's syndrome.

A boy with severe developmental delay, bilateral, symmetrical hallucal duplication, and accessory alveolar frenula was found to have radiological evidence of a large arachnoid cyst compressing the cerebellum and brain stem. We review neurological abnormalities in Mohr's syndrome.

Linfangiectasia pulmonar congénita / Congenital pulmonary lymphangiectasis

Presentamos el caso de un recién nacido con linfangiectasia pulmonar congénita no asociada a otras malformaciones congénitas, que falleció dentro de las primeras 24 horas de vida, destacando los aspectos clínicos, radiológicos y anatomopatológicos

Malignant mixed germ cell tumor of the ovary in a young woman with Smith-Lemli-Opitz syndrome.

The first known case of a malignant germ cell tumor of the ovary occurring in a patient with Smith-Lemli-Opitz syndrome is reported.

Ebstein's anomaly and extracardiac defects.

Ebstein's anomaly of the tricuspid valve occurs as an isolated defect with other forms of congenital heart disease such as transposition of the great arteries or tetralogy of Fallot or, rarely, in association with extracardiac malformations. Because so little is known about this latter group, we studied four cases clinically, at autopsy, and by means of a retrospective chart review. Major extracardiac changes most often involved the craniofacial region, central nervous system, and limbs. Karyotypes were normal, and no distinctive syndromes or anatomic patterns were identified. Since the timing of Ebstein's anomaly is quite precise, ascertainment of such cases on the basis of cardiac morphology may enhance the understanding of etiology and pathogenesis. Both causes and mechanisms may well be diverse, for the clinical histories and anatomic findings in present and previously reported cases vary considerably. Isolated Ebstein's anomaly may develop from topographically and temporally localized damage. Ebstein's anomaly with extracardiac defects may involve damage during a longer, and perhaps earlier, period.

Keratoglobus in the Rubinstein-Taybi syndrome.

The case of a 20-year-old male with the Rubinstein-Taybi syndrome associated with unilateral acute corneal hydrops is presented. The initial findings were of keratoglobus, but after the corneal oedema had settled the cornea assumed a more conical contour. The relationship between keratoglobus, keratoconus, and acute hydrops is discussed.

[Childhood obesity as a symptom of genetic syndromes]. / Detská obezita jako príznak genetických syndromu.

The authors describe on examples from the practice of a genetic clinic seven different genetic syndromes associated with obesity: Laurence-Moon-Biedl, Alström, Weiss, Cohen, Carpenter, Prader-Willi and syndrome of insulin resistance. The autosomal recessive determination of the majority of these syndromes emphasizes their genetic impact with a high risk of repeated occurrence in the family. Visual and hearing defects increase clinical and social importance of these syndromes. When evaluating the genetic prognosis of risk families, the authors consider the possibility of prenatal diagnosis and its forms and the risk of implementation of a preventive method. In some instances obesity is a manifestation of a disorder of insulin receptors.

Complete heart block in the 18p--syndrome. Congenital calcification of the atrioventricular node.

Complete heart block exists when the atria and ventricles beat completely independently of each other. It is heterogeneous with respect to pathogenesis. Occasionally, complete heart block may be symptomatic in infancy. Rarely, it is associated with genetic syndromes. Cardiac abnormalities are unusual in the 18p-syndrome. We describe a female stillborn infant who had 18p-syndrome with hydrops fetalis and complete heart block secondary to atrioventricular node calcification.

Occipitoatlantoaxial malformation with duplication of the atlas and axis in a half Arabian foal.

An unusual occipitoatlantoaxial malformation is described in a 2-week-old male part Arabian foal that was unable to stand at birth and showed signs of spastic tetraparesis due to a cervical spinal cord compression. There were 2 atlases present. One was fused to the occipital bones. The other articulated with the first atlas and an axis which had a long dens that projected into the vertebral canal. Examination of the ossification centers of the axis indicated partial duplication of that bone.

Oesophageal atresia and associated anomalies.

Of 253 infants with oesophageal atresia treated over an eight year period, 122 (48%) had a total of 213 other anomalies. Most commonly affected were the cardiovascular (61 cases, 29%), anorectal (30 cases, 14%), and genitourinary (29 cases, 14%) systems. The VATER (or VACTERL) association was present in 10% of cases, but occurred more often in patients who had oesophageal atresia without an associated tracheo-oesophageal fistula (3/13, 23%). The level of the associated anorectal malformation was not associated with the type of oesophageal atresia. The presence and severity of other anomalies did not influence the basic approach to treatment of the oesophageal atresia--that is, primary repair whenever possible. Despite aggressive treatment, cardiac malformations were the most common cause of death. There were five infants with the CHARGE association, two with Potter's syndrome, and two with 'SCHISIS' syndrome (cleft lip and palate, omphalocoele, and hypogenitalism).

[Right ventricular thrombus mimicking a tumor mass in a newborn with pulmonary atresia--an autopsy report].

Intracardiac masses in infancy are not common. Tumors, thrombi and vegetations of bacterial endocarditis are exceedingly rare in this age group. These masses are seldom diagnosed before the infant's death. Two-dimensional echocardiography is a noninvasive technique that can detect and differentiate intracardiac masses that occur in infants. It can serially detect changes in the size or location of the masses, thus guiding subsequent medical or surgical intervention. An 11-day-old male newborn had suffered from lip and finger nail cyanosis, and dyspnea since 2 days old. Physical examination revealed subcostal retractions and no heart murmur during admission but a grade II/VI systolic murmur with a sometime grade II/VI continuous murmur which could be heard at the left upper sternal border 3 days after admission. The liver was palpable 2 cm below the right costal margin. The electrocardiogram was normal. The chest X-ray showed a normal sized heart (CTR = 0.58) with decreased pulmonary vascularity. Arterial blood gases revealed hypoxemia (PO2 24.1 mmHg) and metabolic acidosis, even though the patient was receiving O2 at 50%. The two-dimensional echocardiogram from the parasternal long axis view showed an echo-dense tumor mass in the right ventricular cavity. At autopsy, a complex congenital heart disease was found. The pathologic findings were: patent ductus arteriosus (1.0 x 0.5 cm), fenestrated foramen ovale, unopening pulmonary valve with thrombus (0.3 x 0.2 cm), right ventricular hypoplasia and hypertrophy of the right ventricular wall (1 cm in thickness). A ball like, organized and calcified thrombus, measuring 2.0 x 1.3 x 1.0 cm was found in the right ventricular cavity.(ABSTRACT TRUNCATED AT 250 WORDS)

Lissencephaly with congenital muscular dystrophy and ocular abnormalities: cerebro-oculo-muscular syndrome.

A Japanese male infant with lissencephaly, congenital muscular dystrophy (CMD), and ocular abnormalities is described. This patient represents features of the cerebro-oculo-muscular syndrome. Cranial computerized tomography revealed diffuse agyria, low density of the white matter, and hypoplasia of the cerebellar vermis. Brain histology suggested type II lissencephaly. These findings are correlated with other similar conditions, such as Walker-Warburg syndrome, Fukuyama-type CMD, and muscle, eye and brain disease.

[Prognosis of antenatal hydrocephalus]. / Pronostic des hydrocéphalies anténatales.

One hundred and eight children born with hydrocephalus were reviewed in order to evaluate their neuropsychological development. Premature children and children with spina bifida were excluded. The most frequent types of hydrocephalus were the communicating type (39 cases) and that where the condition is due to stenosis of the aqueduct of Sylvius (32 cases, not counting 6 cases of Bickers-Adams syndrome and 4 cases of toxoplasmosis); 84 per cent of the children were operated upon before the age of 3 months. The mean follow-up period was 7 years (range: 1 to 14 years). The actuarial survival rate at 10 years was 62 per cent. Among the 75 survivors, 28 per cent had an IQ of at least 80 and 50 per cent and IQ lower than 60; 29 per cent of the 52 children who reached school age had normal education. Forty-six per cent of the children showed little or no disorder of behaviour. The head circumference at birth, the size of the cerebral ventricles and the child's age at the time of surgery had no influence on the neuropsychological development. However, the prognosis seemed to be better in cases without associated malformation or infected valve, in those where the hydrocephalus was due to stenosis of the aqueduct of Sylvius (except when related to sex or toxoplasmosis) and when the first IQ evaluated at the age of about 6 months was higher than 80.

Epidermal nevus syndrome with hemimegalencephaly: a clinical report of a case with acanthosis nigricans-like nevi on the face and neck, hemimegalencephaly, and hemihypertrophy of the body.

A 5-year-old boy with the epidermal nevus syndrome and hemimegalencephaly is reported. He had pigmented nevi on the forehead and neck, and hemihypertrophy of the body from the birth. He developed intractable seizures, mental retardation, and right hemiparesis. His seizure pattern changed from early infantile epileptic encephalopathy to infantile spasms at 2 months of age. Electroencephalograms showed a suppression-burst pattern in the neonatal period, subsequently changing to hypsarrhythmia. Computerized tomography of the brain disclosed slight dilatation of the posterior horn of the lateral ventricle at the age of 2 months. Later, hemimegalencephaly with calcification on the left side of the brain was noted. Histological examination of the pigmented nevus on the neck showed it to be an acanthosis nigricans-like lesion. Clinical differences between tuberous sclerosis and epidermal nevus syndrome with hemimegalencephaly are discussed.

Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency.

A newborn infant exhibiting seizures and spastic tetraparesis at the age of 1 week was shown to excrete excessive quantities of sulphite, taurine, S-sulphocysteine and thiosulphate, characteristic of sulphite oxidase deficiency. In addition, increased renal excretion of xanthine and hypoxanthine combined with a low serum and urinary uric acid was consistent with xanthine dehydrogenase deficiency. Both deficiencies could be established at the enzyme level. The primary defect giving rise to the combined abnormalities is the absence of a molybdenum cofactor, a molybdenum-containing pterin being an essential component of both enzymes. The patient developed a severe neurological syndrome, brain atrophy and lens dislocation and died at the age of 22 months. Attempts at treatment, such as oral administration of ammonium molybdate, sodium sulphate, D-penicillamine, 2-mercaptoethane sulphonic acid, pyridoxine and thiamine did not influence the clinical course.

Cerebellar infarction in a patient with Waardenburg syndrome.

We report on the occurrence of a basilar artery embolism in a 9-year-old boy with Waardenburg syndrome type I. We examined eight other relatives and found that dystopia canthorum was present in six. One of these also had a lumbar meningomyelocele. According to descriptions provided by the grandmother of the propositus, nine other relatives were also affected.

Craniofacial approach for the neonatal management of frontonasal encephalocoeles.

Three nasofrontal encephalocoeles managed at the University of South Alabama Medical Center are presented. Each consisted of abnormal brain originating from one frontal lobe, although the amount of cerebral tissue and the accompanying skin and meningeal layers varied. The encephalocoeles protruded through a defect in the anterior skull base near the cribiform plate. Repair in the neonatal period was required in two of the infants because of the size of the lesion and obstruction of the nasal airway. The operative approach utilized a bifrontal craniotomy with resection of the encephalocoele intradurally, repair of the anterior cranial fossa dura and osteoplastic repair of the foramen cecum defect. The closure of the facial defect depended upon the nature of the skin covering the herniation; either absence or excess of skin occurred. The preoperative evaluation disclosed associated congenital deformities in 2 of 3 patients in this series. Computerized tomographic scanning was of importance in preoperative planning. The operative technique can be modified to allow for each child's unique anatomy. Repair of nasofrontal encephalocoeles in the neonatal period may simplify the required operative procedures.

Ocular injuries by autostimulation in mentally retarded and nearly blind children.

Recently, the authors treated two mentally retarded and nearly blind children whose eyes were injured by autostimulation. Case 1, who has Joubert's syndrome associated with Leber's congenital amaurosis, continued to press his left eye with his hands, and a severe corneal ulcer ensued. Case 2, who is suspected of having optic atrophy or cortical blindness, looked too closely at a bright light and burned his eyelid.

Optic nerve hypoplasia associated with pupillary light-near dissociation, spastic paraparesis and other non-ocular anomalies.

We report a case of bilateral optic nerve hypoplasia in a patient with pupillary light-near dissociation, spastic paraparesis with deep hyperreflexia, mild distal hypotrophy especially of lower limbs, bilateral pes cavus and signs of motor peripheral neuropathy. Other associated signs were rhinolalia, hypotrophy and fasciculations of the tongue and cardiomyopathy. We differentiate the condition from a number of hereditary ataxias and paraplegias. The clinical features of Strümpell-Lorrain spastic paraplegia and amyotrophic lateral sclerosis seem to resemble most closely that of our patient.