Glycine N -methyltransferase deficiency: a new patient with a novel mutation.

We report studies of a Greek boy of gypsy origin that show that he has severe deficiency of glycine N -methyltransferase (GNMT) activity due to apparent homozygosity for a novel mutation in the gene encoding this enzyme that changes asparagine-140 to serine. At age 2 years he was found to have mildly elevated serum liver transaminases that have persisted to his present age of 5 years. At age 4 years, hypermethioninaemia was discovered. Plasma methionine concentrations have ranged from 508 to 1049 micro mol/L. Several known causes of hypermethioninaemia were ruled out by studies of plasma metabolites: tyrosinaemia type I by a normal plasma tyrosine and urine succinylacetone; cystathionine beta-synthase deficiency by total homocysteine of 9.4-12.1 micro mol/L; methionine adenosyltransferase I/III deficiency by S -adenosylmethionine (AdoMet) levels elevated to 1643-2222 nmol/L; and S -adenosylhomocysteine (AdoHcy) hydrolase deficiency by normal AdoHcy levels. A normal plasma N -methylglycine concentration in spite of elevated AdoMet strongly suggested GNMT deficiency. Molecular genetic studies identified a missense mutation in the coding region of the boy's GNMT gene, which, upon expression, retained only barely detectable catalytic activity. The mild hepatitis-like manifestations in this boy are similar to those in the only two previously reported children with GNMT deficiency, strengthening the likelihood of a causative association. Although his deficiency of GNMT activity may well be more extreme, his metabolic abnormalities are not strikingly greater. Also discussed is the metabolic role of GNMT; several additional metabolite abnormalities found in these patients; and remaining questions about human GNMT deficiency, such as the long-term prognosis, whether other individuals with this defect are currently going undetected, and means to search for such persons.

Shigellosis of childhood in northern Greece: epidemiological, clinical and laboratory data of hospitalized patients during the period 1971-96.

The aim of this study was to evaluate epidemiological, clinical and laboratory data of shigellosis in children from northern Greece, hospitalized in our department during the period 1971-96. In total, 422 cases of shigellosis, aged 1 month to 14 y (238M, 184F) were hospitalized during the study period. The annual distribution was approximately stable until 1990, the mean number of cases per year being about 20. During the last 4 y the incidence significantly decreased. Shigella was serotyped in 138/422 cases. Seventy six of the strains were S. flexneri (55%) and 56 S. sonnei (40%). In the majority of cases the clinical picture was mild. Severe dehydration was seen in only 6 patients. Ninety four patients (22%) had extra-intestinal manifestations. Most common of these were convulsions (16%) and, less frequently, disturbances of consciousness (n = 26), rash (n = 9), shock and disseminated intravascular coagulopathy (n = 2), nerve paralysis (n = 2), severe anaemia (n = 2) and haemolytic-uraemic syndrome (n = 1). Nine patients had acute encephalopathy of 12 h to 12 d duration. It is important to note that all these cases recovered completely with no residual neurological deficit, except for 1 girl who developed temporal epilepsy 8 y later. Spinal fluid was normal in all 42 examined patients. Antibiotics were given to 212 of 422 patients, mainly during the first half of the study period. Shigella resistance to antibiotic was significant for cotrimoxazole (24%) and ampicillin (16%). All patients were cured. Shigellosis is a mild disease in our area, with a decreasing prevalence.

Listeria meningitis in children: report of two cases.

We report two cases of meningitis caused by Listeria monocytogenes in children. The first patient was a healthy 14-month-old boy and the second patient a 3-year-old girl with Byler disease which, however, is not reported as a predisposing factor for listeriosis. We present these cases because Listeria infection, although common in neonates, is extremely infrequent during infancy and childhood.

Incidence of ceftriaxone-associated gallbladder pseudolithiasis.

We prospectively evaluated the incidence of gallbladder pseudolithiasis in children treated with high doses of ceftriaxone for a variety of serious infections. We also monitored the time interval needed for this phenomenon to develop and resolve completely after initiation and cessation of treatment, respectively. Included in this study are 44 children treated with ceftriaxone 100 mg/kg/d divided into 2 equal intravenous doses and followed by serial abdominal sonography. Eleven children developed pseudolithiasis of gallbladder 2-9 d after initiation of ceftriaxone therapy. Six children (54.5%) developed this complication within the first 3 d. Lithiasis completely resolved 8-23 d after the end of treatment. In conclusion, pseudolithiasis of the gallbladder developed in 25% of sick children and completely resolved in all patients. Early development of this complication was not exceptional. It occurred in more than half of these children.