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Biomedical subjects

L E Walsh

Publications and source records attributed to L E Walsh.

7 recordsLinked to original sources
PubMed2001

Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications.

We present a case of a child with del(13) (q31.1qter), VACTERL association, and penoscrotal transposition. Deletion of the distal long arm of chromosome 13 is associated with variable phenotypes. These phenotypes are divided into three clusters; each cluster represents a specific deleted segment of 13q. Individuals with deletions of a critical region at 13q32 have multiple congenital malformations that include components of the VACTERL association. Our patient had all six manifestations of VACTERL association. In addition, he had complete penoscrotal transposition, a unique malformation reported rarely in VACTERL association and only twice previously in deletion of distal 13q. We reviewed all reported cases of distal 13q deletions to date. Of these 137 patients, 15 could be classified into the VACTERL association. Ours was the only patient with distal 13q deletion and all VACTERL association features and also the only one with tracheoesophageal fistula. Neither holoprosencephaly nor the other central nervous system malformations that have been seen in individuals with distal 13q deletions were apparent in him. The patient presented here appears to be unique among individuals with distal 13q deletion. His cluster of malformations strengthens the argument that distal 13q deletion is a cause for VACTERL association, and that this causal relationship implies a syndromic form of VACTERL. In addition, this case and those ascertained from the literature suggest that penoscrotal transposition should be considered part of both the distal 13q-deletion syndrome and some forms of VACTERL association.

Abnormalities, Multiple↗
PubMed2001

Inherited epilepsies.

Epilepsy may be acquired or inherited. At least one half of epilepsy is genetic in origin; this figure is likely higher in children regardless of whether seizures are generalized or partial. Inherited epilepsies are classified as benign, cryptogenic, or symptomatic depending on associated clinical, electrographic, and neuroimaging features. To date, genetic mutations in the idiopathic inherited epilepsies affect channel function within the central nervous system; genes underlying symptomatic epilepsies are more heterogeneous. Accurate diagnosis of an inherited epilepsy syndrome provides useful prognostic information; it also may help guide diagnostic evaluation, including request for specific gene testing. In the near future, the relationship between genetic defect and response to specific anticonvulsants may also be better defined.

Adolescent↗
PubMed1993

Rapid-onset dystonia-parkinsonism.

We studied a large family with a previously undescribed, autosomal dominant dystonia-parkinsonism syndrome. We chose to call the disorder "rapid-onset dystonia-parkinsonism" (RDP) based on the unusually rapid evolution of signs and symptoms. Affected individuals developed dystonia and parkinsonism between 14 and 45 years of age. The onset was acute in six individuals with the abrupt onset of symptoms over the course of several hours, and subacute in four others who had evolution over several days or weeks. Thereafter, progression of symptoms was usually very slow. Two had intermittent focal dystonia without parkinsonism, and one obligate gene carrier was asymptomatic at 68 years. CSF levels of homovanillic acid were decreased in the two individuals tested, but dopaminergic therapy provided only slight benefit. The DYT1 gene responsible for early-onset, generalized idiopathic torsion dystonia in Jewish and some non-Jewish families has been mapped to chromosome 9q34. Linkage analysis with three markers near the DYT1 gene showed several obligate recombinations, excluding DYT1 as a candidate gene for RDP. We believe RDP is unique and should be classified separately from other forms of hereditary dystonia-parkinsonism.

Adolescent↗
PubMedDate not supplied

Ischemic strokes in children.

Ischemic stroke is an uncommon, but significant cause of disability in childhood. Children with strokes present with predictable deficits as adults do; however, fever and seizures at stroke onset are more common in children than in adults. Strokes in children have diverse etiologies and require extensive evaluation. Etiology remains obscure in up to half of the patients. Prognosis in childhood stroke is not benign and up to 50% of pediatric stroke patients have chronic sequelae. Emerging therapies may alter prognosis in certain populations of children at risk for stroke, but more research is necessary.

Brain Ischemia↗
PubMedDate not supplied

Neurologic complications of pediatric liver transplantation.

The neurologic complications of 24 children, ages 5 months to 18 years, following orthotopic liver transplantation at the Indiana University hospitals are reported. Biliary atresia (14 patients) was the most common cause for orthotopic liver transplantation. Three children died. Seventeen children (70%) had no neurologic deficit on follow-up 6 months or longer after transplantation. Eleven children (46%), including 4 of 16 patients (25%) who had received OKT3, had neurologic complications. Seven children (29%) had new-onset seizures; 4 of these patients had status epilepticus. Two children had intracranial hemorrhage. Seizures occurred later in children than in adults following orthotopic liver transplantation and were not associated with poor prognosis. Longer term follow-up is indicated to assess subtle, cognitive deficits following liver transplantation in children.

Adolescent↗