Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency.

We report clinical and biological investigations in two patients (twin brothers) with 2-methylacetoacetyl-CoA thiolase deficiency. Main clinical features included important staturo-ponderal delay, frequent infectious rhinopharyngitis episodes and an acute metabolic acidosis at the age of 4 years, this metabolic decompensation being adequately halted by bicarbonate supplementation. Since that age, patients developed rather favorably, however, with persistence of the staturo-ponderal delay. Organicaciduria typical of 2-methylacetoacetyl-CoA thiolase deficiency was recorded consisting of excessive excretion of tiglylglycine, 2-methyl-3-hydroxybutyrate, 3-hydroxyisovalerate, 2-methylglutaconate, adipate and 2-methylacetoacetate. Blood carnitine levels were altered in patients with increased total and esterified carnitine concentrations and enhanced acyl/free carnitine ratios. Determination of acylcarnitine profiles showed that patients excreted excessive amounts of several acylcarnitines in urine including propionyl, butyryl, isobutyryl, isovaleryl, 2-methylbutyryl and tiglyl-carnitine, the latter acylcarnitine being prominent with, in one of the patients, occurrence of a previously undescribed isomer of this carnitine ester, possibly 2-ethylacrylyl-carnitine. Excretion of these acylcarnitines in urine was increased in response to L-carnitine although, as a whole, this therapy resulted in a less important stimulation of esterified carnitine removal in urine from patients than in the case of supplemented controls. Biochemical investigations on cultured skin fibroblasts confirmed 2-methylacetoacetyl-CoA thiolase deficiency. Through the present report on this rare disease in two siblings, we would like to underline that acylcarnitines can be used in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency, a view supported by acylcarnitine profiles further determined in another patient with proven oxothiolase deficiency, adding this pathology to the list of beta-oxidation disorders that may be screened successfully through determination of acylcarnitine profiles in body fluids.

[Proteus syndrome]. / Syndrome Protée.

We report the case of a 4-year old boy presenting with a polymalformative syndrome made of cutaneous and subcutaneous lesions associated with visceral and skeletal lesions. The cutaneous lesions consisted of 3 verrucous hamartomas, one haemangioma and one lymphangioma. The subcutaneous lesions were melting of panniculus adiposus, plantar tumefaction and diffuse lipomatosis of the peritoneal and retroperitoneal cavities. The skeletal lesions were uneven lower limbs and dorsal scoliosis. Atrophy of the intestinal villi was also found. The diagnosis of Proteus syndrome was made.

Evaluation of abdominal pain in Henoch-Schönlein syndrome by high frequency ultrasound.

The authors report the use of high frequency ultrasound (7.5-10 MHz probes) for the detection of intestinal complications in 14 children with Henoch-Schönlein purpura. Ultrasound gave information of 3 levels: (1) It explained the acute abdominal pain by showing in all cases the oedematous haemorrhagic infiltration of the intestinal wall, which appeared thickened (3-11 mm): lesions were diffuse (6 cases) or focal (duodenal in 5 cases, jejunal in 2 cases and ileal in one). (2) It followed the evolution of the disease: extension of lesions (5 cases) or resolution (progressive decrease of parietal thickening, reexpansion of small bowel lumen, reappearance of peristalsis). (3) It always detected surgical complication: ileo-ileal intussusception (3 cases), perforation (1 case).