Renal tubular dysgenesis is a recently recognized autosomal recessive condition characterized by short and poorly developed proximal convoluted tubules, leading to oligohydramnios, Potter sequence, and neonatal respiratory failure. We report an additional 9 cases from one pediatric center, suggesting that this syndrome is not as rare as was previously thought. Normal amniotic fluid volumes in affected pregnancies prior to the 22nd week of gestation have been documented, compromising early prenatal diagnosis. Late second trimester sonographic demonstration of oligohydramnios, with structurally normal kidneys, should suggest this diagnosis and the need for detailed post-mortem pathological examination.
A diagnosis of Smith-Lemli-Opitz syndrome was made shortly after birth in a small-for-dates infant, on the basis of a characteristic face, penoscrotal hypospadias, bilateral postaxial hexadactyly, and bilateral syndactyly of toes 2-3. The clinical course was marked by failure to thrive, severe delay, refractory myoclonic jerks beginning at age 2 months, and increasing hepatosplenomegaly. He developed corneal clouding and increased gingival hypertrophy and died at age 18 weeks. Autopsy disclosed widespread storage of mucopolysaccharides and lipids within the macrophages and, to a lesser extent, parenchymal cells, of all organ systems. There was extensive demyelination of the cerebral white matter, and dystrophic calcification in the cerebrum, cerebellum, and brainstem. There was no evidence of primary neuronal involvement in the storage. Although the chance concurrence of 2 uncommon diseases is rare, a causal link between the clinical anomalies and the storage disorder cannot be argued convincingly on the basis of one case. Careful pathologic studies of other children who die with clinical signs compatible with Smith-Lemli-Opitz syndrome are indicated.
Isolated angiitis of the central nervous system, a rare inflammatory condition of the nervous system, characterized by vasculitis of the small vessels, has not, to the best of our knowledge, been described in childhood. It usually presents with a diversity of neurological symptoms in the fifth to eighth decades of life. We reviewed the case of an 8 year old male with autopsy proven isolated cerebral angiitis, to encourage the consideration of this disorder in children; and to emphasize the lack of sensitivity of present modalities of neurological investigation in the diagnosis. RESUME: Angeite isolee du systeme nerveux central chez I'enfant L'angeite isolee du systeme nerveux central, une affection inflammatoire rare du systeme nerveux, caracterisee par une vasculite des petits vaisseaux, n'a jamais, au meilleur de notre connaissance, ete decrite dans l'enfance. Elle se presente avec divers symptomes neurologiques entre la cinquieme et la huitieme decade de vie. Nous avons revu le cas d'un jeune gar?on de 8 ans avec angfiite ceVebrale isolee prouv£e a l'autopsie, pour inciter les cliniciens a considerer cette maladie chez les enfants et pour souligner le manque de sensibilite des modalites actuelles d'investigation neurologique dans ce diagnostic.Can. J. Neurol. Sci. 1990; 17:151-154 Isolated angiitis of the central nervous system is a rare vasculitic process involving only the small vessels of the brain. There have been approximately 36 histopathologically confirmed cases since 1922. 1 The clinical spectrum of the disease has been well described by several authors, and the majority of the cases have occurred in the fifth to eighth decades of life.'" 5 We present the case of an eight year old boy with post-mortem confirmation of this disorder. This case expands our understanding of the clinical spectrum of the disease, in that, to the best of our knowledge, he is the youngest case described, his clinical course was complicated by recurrent intracerebral bleeds, and his investigations included the use of magnetic resonance imaging.
CASE REPORT
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.