Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.

Gaucher disease (GD) is a lysosomal storage disorder with a broad, overlapping clinical spectrum. The presented two case reports highlight the clinical evaluation required in neuronopathic GD to assist with medical management and genetic counselling.

Acute abdominal symptoms and signs in children and young adults with spina bifida: ten years' experience.

BACKGROUND/PURPOSE: Diagnosis and management of the acute abdomen in patients with spina bifida (SB) can be problematic. There are at least 4 clinical factors that can predispose to the development of acute abdominal symptoms and signs, and patients with a thoracic level lesion can have a partially insensate abdomen. The authors analyzed their accumulated experience to determine the annual incidence of acute abdominal signs and symptoms in children and young adults with spina bifida, the differential diagnosis, the operative management, and the outcome. The pertinent literature was reviewed. METHODS: Cases were ascertained during a 10-year period at 1 institution and reviewed retrospectively. RESULTS: Twenty-two episodes of acute abdominal symptoms and signs in 19 children and young adults with SB were ascertained over 10 years at 1 institution, for an annual incidence of 0.74%. More patients had a thoracic level lesion (n = 12; 60%) than in the clinic population as a whole (27%; P =.04), but the gender distribution was similar (58% girls), as was the prevalence of ventriculoperitoneal shunts (VPS; 95%). The median age was 13 years (range, 1 year to 26 years). Hospitalization was necessary for 19 (86%) of the 22 episodes. The duration of symptoms before diagnosis was a median of 3 days (range, 1 to 14 days). Most patients (82%) presented with abdominal pain. Fever was present in 27%, shock in 23%, and peritoneal signs in 23%. There were 14 different final diagnoses, 10 (71%) of which were associated with a predisposing factor. Of the 22 episodes, 18 (82%) could be attributed to an underlying factor: (1) neurogenic bladder (9; 41%); (2) neurogenic bowel (3; 14%); (3) VPS (4; 18%); (4) complications from previous surgery (2; 9%). Thirteen patients (59%) underwent a total of 20 surgical procedures of 12 different kinds. Despite awareness of the complexities involved, 3 patients (14%) died: 1 from complications resulting from bladder perforation; 1 from urosepsis and shock; and 1 from peritonitis caused by VPS infection. CONCLUSION: The differential diagnosis of the acute abdomen in patients with SB is broad, conditions requiring surgery are frequently diagnosed, and the mortality rate is substantial, despite aggressive management.

Prostatodynia in United Nations peacekeeping forces in Haiti.

Prostatodynia is a clinical entity associated with voiding symptoms and pelvic pain suggestive of prostatitis but with a normal prostate examination and without evidence of inflammation or infection in expressed prostatic secretions. The problem tends to be chronic and is vexing in its management. Although thought to be a common condition, prevalence data are generally lacking. From June to October 1995, the U.S. Army's 86th Combat Support Hospital provided medical support to a multinational United Nations peacekeeping force in Haiti. Patients diagnosed with prostatodynia were more common (13 cases) than men with other urologic problems (urolithiasis, 6 cases; urinary tract infection, 6 cases; scrotal abscess/mass, 2 cases; epididymitis, 1 case). Patients tended to be young (mean age 29.8), had multiple visits, failed to respond to multiple courses of antibiotics for presumed "prostatitis," and denied recent sexual relations. Some patients reported having had similar symptoms on prolonged separation from their spouses in the past that resolved with resumption of normal intercourse. Masturbation, however, had no impact on symptoms and was painful in some individuals. Terazosin, an alpha-antagonist, and stress-reduction therapy led to improvement in some patients' symptoms. A discussion of these retrospective findings in light of what is known about the possible etiologies and treatment of prostatodynia is presented. Prostatodynia appears to be a common problem in deployed troops and can lead to frequent use of medical services. Physicians supporting long deployments need to be aware of this entity.

The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group.

Mutations in the gene for methylenetetrahydrofolate reductase (MTHFR) have been implicated as a risk factor in the formation of neural tube defects. We investigated this gene in a series of 65 sporadic American Caucasian patients with lumbosacral NTD and their unaffected parents, using both case-control design and assessment of linkage disequilibrium. We found no evidence to support mutations in MTHFR as a significant risk factor for NTD in this population.