Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.

We present the morphological and biochemical findings in a twelve month old girl with chondrodysplasia punctata X2 - Conradi-Hünermann-Happle syndrome. This disease is characterized by limb length discrepancies, growth retardation, ichthyosis, cataracts, and punctate calcification. The diagnosis could finally be confirmed by increased concentrations of cholesterol precursors as recently found in the plasma and tissues of affected patients.

Yunis-Varon syndrome: evidence for a lysosomal storage disease.

We present clinical and neuropathological findings in a female infant with Yunis-Varon syndrome (YVS) comprising absence of thumbs and halluces, aphalangia of fingers and toes, hypoplasia of clavicles, severely undermineralized skeleton (especially skull), microcephaly, and multiple nonskeletal anomalies. The patient also had a Dandy-Walker malformation, hydrocephalus, and hypertension, which were not reported previously in YVS. The infant excreted an abnormal unidentified oligosaccharide. The patient died at day 108 with severe neurological impairment. Autopsy showed prominent intraneuronal inclusions with vacuolar degeneration, mainly in the thalamic, dentate nuclei, cerebellar cortex, and inferior olivary nuclei. No storage phenomena were observed in other tissues. These findings strongly suggest that a lysosomal storage disorder is involved in the pathogenesis of Yunis-Varon syndrome.

Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.

The case of a 9-month-old girl with glutaric aciduria type 1 (GA 1) is reported. On initial presentation at 6 months of age, the patient demonstrated bilateral subdural hemorrhages and widening of the basal cisterns. After neurosurgical intervention the subdural effusions regressed; their etiology remained unclear. At the age of 9 months the patient presented again because of progressive loss of psychomotor abilities and a dystonic movement disorder. Cerebral MRI revealed regressive subdural hematoma, but marked frontotemporal atrophy as well. Because of a suspected metabolic disorder, urinary analysis of organic acids was performed. This repeatedly showed marked excretion of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid, indicating a diagnosis of GA 1. Considering our patient's history, we recommend the inclusion of GA 1 in the differential diagnosis of patients with unexplained subdural hematoma and neurological deficits.

Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction.

We report on a 2-year-9-month-old boy with the typical features of craniometaphyseal dysplasia with hyperostosis and sclerosis of the cranial vault and mild splaying of the metaphyses. The boy already presented during the neonatal period with the unusual clinical picture of breathing and feeding problems due to severely enlarged and ossified inferior nasal conchae causing obstruction of the nasal lumen.

Extracerebral intracranial glioneural hamartoma with extension into the parapharyngeal space.

A newborn had an extracerebral, intracranial mass extending from the right middle cranial fossa through the base of the skull to the parapharyngeal space. The mass was predominantly composed of immature brain tissue. It was enclosed by its own leptomeninges and dura and was classified as a glioneural hamartoma.

Familial schizencephaly: further delineation of a rare disorder.

We report on two Somalian sibs with severe developmental retardation and spastic cerebral paresis. Both children have bilateral cerebral clefts in the Sylvian region with dilatation of the ventricles, absence of the septum pellucidum, and heterotopia. The diagnosis of familial schizencephaly was made. The occurrence of schizencephaly in two affected sibs supports a genetic basis for schizencephaly.

Connatal periventricular pseudocysts in the neonate.

Connatal periventricular pseudocysts are important sequelae of different noxious insults in the developing brain. Accurate diagnosis of those pathologic entities during early life has therefore become of direct concern to the clinician. Our experience with 12 infants of connatal periventricular pseudocysts provides the basis of this study. They belonged to different pathological entities: focal paraventricular pseudocysts (5 cases), subependymal pseudocyst (3 cases), connatal viral infection (3 cases), and chromosomal abnormality (1 case). When present at birth, they suggest an intrauterine pathology. It has only been with the advent of real-time cranial ultrasound that periventricular pseudocystic lesions can be detected in neonates following an abnormal pregnancy. Some obstetric complications during the second trimester can cause paraventricular or subependymal pseudocyst in the foetus. Neurotrophic viral infection and chromosomal abnormalities have also been implicated in the production of cystic lesions in this region. These lesions are not a terminal event in infants but may be a condition of major clinical importance for further neurological development.

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.

[Differential diagnosis of periventricular pseudocysts in the neonatal period]. / Differentialdiagnose periventrikulärer Pseudozysten im Neugeborenenalter.

Periventricular pseudocysts are important sequelae of different noxious insults in the developing brain. Accurate diagnosis of those pathologic entities during early life has therefore become of direct concern to the clinician. When present at birth, they suggest an intrauterine pathology. It has only been with the advent of real-time cranial ultrasonography that subependymal cystic lesions can be detected antemortem. 25 infants were postnatal diagnosed in ultrasound as having periventricular cystic lesions. They belonged to different pathological entities: focal paraventricular pseudocysts (5 cases), periventricular leukomalasia (6 cases), polycystic encephalomalacia (1 case), subependymal pseudocyst (9 cases), connatal viral infection (3 cases), and chromosomal abnormality (1 case). Sequelae of noxious insults in fetal life appear clearly different to those after perinatal injury. Ultrasound findings should be interpreted in combination with obstetric history. Some obstetric complications during 2. trimester can cause paraventrikular cystic formation in fetus. Neurotrophic viral infection and chromosomal abnormalities have also been implicated to produce cystic lesions in this region. This work implies that a wide variety of intracranial pathology is found in newborns with periventricular cystic lesion. Those lesions are not a terminal event in infant, but may be a condition of major clinical importance for further neurologic development.

[Schizencephaly]. / Schizenzephalie.

Schizencephaly is a developmental disorder of the human brain caused by a defect of neuronal migration. We observed a 7 month old african boy suffering from nystagmus and hemiparesis. The neuroimaging reveals a large cleft in cortical and subcortical structures and typical changes of polymicrogyria. In the differential-diagnosis encephaloclastic porencephaly should be considered.

Mucocele of paranasal sinuses in a young infant with cystic fibrosis.

We report the case of an infant who developed severe nasal obstruction as an unusual first presentation of cystic fibrosis (CF). Computed tomography (CT) showed homogeneous opacification of the symmetrically enlarged paranasal sinuses that gave the clue for the final diagnosis.

[Megacystis microcolon intestinal hypoperistalsis syndrome: A neuropathy?]. / Das Megazystis-Mikrokolon-intestinale Hypoperistaltik-Syndrom: Eine Neuropathie?

2 cases of megacystis microcolon intestinal hypoperistalsis are presented. A female newborn was capable of being fed completely enterally after three months. Laparotomy was not performed. A male newborn was subjected to laparotomy after 3 days and an ileal stoma was applied. The infant died after 6 months of complete parenteral feeding without any peristalsis having been initiated. Biopsies of the colon and small intestine of the patient showed normal HE staining findings. Histochemical examination revealed type B neuronal dysplasia with neuronal hypogenesis. The findings of 27 cases described in the literature are discussed with special reference to the histological findings of the intestinal wall.

[Ectopic ureterocele--diagnosis and therapy]. / Die ektope Ureterocele--Diagnostik und Therapie.

The ectopic ureterocele is a relatively frequent congenital abnormality of the urinary tract. Its clinical signs are often uncharacteristic. Therefore the sometimes discrete changes in the diagnostic evaluations have to be looked for. The various procedures of which the excretory urography still plays a central role are discussed with their possibilities and limitations. The removal of the mostly dysplastic upper segment with its ureter is usually the most sensible treatment. Only in rare cases, where scintigraphically and clinically the segment seems preservable, a ureteropyelostomy is indicated. The different indications for primary and secondary excision of the ureterocele itself are outlined. A minimal therapy, that does not correct the underlying anatomical abnormality like the endoscopic incision should be reserved for uroseptic emergencies.

[Idiopathic juvenile osteoporosis--report of 2 cases]. / Idiopathische juvenile Osteoporose--Bericht über zwei Fälle.

Idiopathic juvenile osteoporosis appears in temporal coherence with puberty leading to a reversible generalized osteoporosis of the skeletal system, spontaneous fractures and skeletal deformities. First symptoms in a 14 years old boy occurred as muscle pareses. A lymphocytic pleocytosis could be detected in cerebrospinal fluid. The next two years more than 20 spontaneous fractures occurred. Height was reduced by 15 cm. We first saw the boy at 17 years and could find decreased serum concentrations of calcitriol. Substitution with calcitriol resulted in regression of the pareses within days. Spontaneous fractures did not develop during the next two years of therapy. Subsequently serum calcitriol level was normalized. In a 10 years old boy first symptom occurred as fractures resulting from minimal traumas. In this case also during previous calcitriol therapy no new fractures occurred.

Neurenteric cyst diagnosed by technetium-99m pertechnetate sequential scintigraphy.

Neurenteric cysts are rare congenital anomalies which present as mediastinal tumors associated with vertebra anomalies. Two-thirds of them are lined with gastric mucosa and are potentially life threatening. An exact differential diagnosis is difficult preoperatively but is absolutely necessary because of the grave prognosis if left untreated. We present a case in which [99mTc]pertechnetate sequential scintigraphy demonstrated gastric mucosa in the cyst and helped to confirm the diagnosis. The scintigraphic findings are correlated with radiologic, sonographic, and pathologic features.

[Neurenteric cyst of the mediastinum--case report and review of the literature]. / Neurenterische Zyste des Mediastinums--Fallbericht und Literaturübersicht.

A case of an infant with a mediastinal neurenteric cyst is used to review this rare entity. By definition a neurenteric cyst is the combination of an entodermal cyst with a vertebral dysplasia. Neurenteric cysts are located in the posterior mediastinum, preferentially on the right side. In a third of the patients these cysts are associated with malformations of CNS a./o. GI tract. They occur predominantly in males. The symptoms of a mediastinal mass usually become obvious during the first months of life. The therapy of choice is complete resection.

[Intraventricular cerebral hemorrhage in the fetus as a cause of congenital hydrocephalus. A contribution to the origin of congenital hydrocephalus]. / Intraventrikuläre Hirnblutung des Feten als Ursache eines konnatalen Hydrozephalus. Ein Beitrag zur Genese des konnatalen Hydrozephalus.

Three newborns with posthemorrhagic hydrocephalus after fetal cerebral intraventricular hemorrhage are presented. In all 3 patients hydrocephalus internus was already prenatally diagnosed. Cerebral ultrasound postnatally performed revealed findings of old cerebral intraventricular hemorrhage. Severe factor VIII deficiency was found in one of the patients. The possible connexion of fetal intraventricular hemorrhage with coagulopathy of the fetus has not yet been defined.

Hydrothorax, ascites, and right diaphragmatic hernia.

Hydrothorax and/or ascites may be the most striking finding in children with right diaphragmatic hernia. The clinical, radiographic, and pathologic findings of five children with right diaphragmatic defects through which the liver had herniated are described. Three presented with a right hydrothorax, one with a right hydrothorax and ascites, and another with ascites. All four children with large right hydrothoraxes were found to have an incarcerated peritoneal sac filled with fluid in the right side of the chest at surgery or autopsy. Lymphatic congestion and obstruction was the probable cause for the fluid collection, which tended to enlarge with time. This condition may be life threatening, and two of the four patients died soon after birth because of hypoplasia of the lungs. Fetal ultrasonography in both had disclosed right intrathoracic cystic masses, and in one, intrauterine aspiration to decompress the lungs had been attempted. The other two patients are alive and well following surgical repair at 1 week and 7 months of age. Ascites was present in two patients and was believed to be due to hepatic venous obstruction, a mechanism similar to that responsible for the Budd-Chiari syndrome.

[Cortical hyperostoses after long-term prostaglandin E2 therapy]. / Kortikale Hyperostosen unter längerfristiger Prostaglandin E2-Therapie.

Cortical hyperostoses are found to be side effects after therapy in early infancy with prostaglandin E1 and E2. Correlation seems to exist between dosage and duration of therapy. Radiologically the lesions cannot be differentiated from Caffey's disease. Pathogenetic relationship of the two diseases is discussed; 62 cases of newborn children with ductal related vitium cordis, who were treated for a short time or for longer with prostaglandin E2 are demonstrated.