Reversible ventriculoperitoneal shunt dysfunction and chronic constipation: case report.

Constipation can cause transient malfunction of the ventriculoperitoneal shunt (VPS). Patients with myelomeningocele or cerebral palsy are often diagnosed with hydrocephalus and constipation due to neurogenic bowel. These patients are more prone to VPS dysfunction, often requiring surgical revision. The authors report the case of a 6-year-old girl with a VPS that had been implanted due to hydrocephalus secondary to myelomeningocele. The patient was brought to the emergency department with intermittent headache, vomiting, constipation, and abdominal distension and pain. A CT scan revealed ventricular dilatation and radiography of the abdomen showed bowel loop distension. After a Fleet enema and digital maneuvers, her abdominal distension and symptoms improved. A CT scan obtained 24 hours later showed a reduction in ventricular size. The mechanism by which constipation can lead to VPS malfunction can be traced to indirect increases of intraabdominal pressure and direct obstruction of the catheter by distended intestinal loops. Treating constipation can restore the free circulation of the CSF and avoid surgical intervention. Careful neurological monitoring of these patients is essential, because some measures used to treat constipation can increase intracranial pressure. The objective of this report was to highlight constipation as a possible cause of transient VPS malfunction, thereby avoiding unnecessary surgical revisions, to which children with hydrocephalus are frequently submitted.

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A broad range of studies have been published focusing on Pompe patients from different countries, but none from Brazil. We investigated 41 patients with either infantile-onset (21 cases) or late-onset (20 cases) disease by muscle pathology, enzyme activity and GAA gene mutation screening. Molecular analyses identified 71 mutant alleles from the probands, nine of which are novel (five missense mutations c.136T > G, c.650C > T, c.1456G > C, c.1834C > T, and c.1905C > A, a splice-site mutation c.1195-2A > G, two deletions c.18_25del and c.2185delC, and one nonsense mutation c.643G > T). Interestingly, the c.1905C > A variant was detected in four unrelated patients and may represent a common Brazilian Pompe mutation. The c.2560C > T severe mutation was frequent in our population suggesting a high prevalence in Brazil. Also, eight out of the 21 infantile-onset patients have two truncating mutations predicted to abrogate protein expression. Of the ten late-onset patients who do not carry the common late-onset intronic mutation c.-32-13T > G, five (from three separate families) carry the recently described intronic mutation, c.-32-3C > A, and one sibpair carries the novel missense mutation c.1781G > C in combination with known severe mutation c.1941C > G. The association of these variants (c.1781G > C and c.-32-3C > A) with late-onset disease suggests that they allow for some residual activity in these patients. Our findings help to characterize Pompe disease in Brazil and support the need for additional studies to define the wide clinical and pathological spectrum observed in this disease.