MACROSOMIA, OBESITY, MACROCEPHALY AND OCULAR ABNORMALITIES (MOMO SYNDROME) IN 2 UNRELATED PATIENTS - DELINEATION OF A NEWLY RECOGNIZED OVERGROWTH SYNDROME

We describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retardation, and delayed bone maturation. Both cases are of sporadic occurrence with no consanguinity between the parents. We suggest that this syndrome is due to a new autosomal dominant mutation and propose to designate it with the acronym of ''MOMO syndrome'' (Macrosomia, Obesity, Macrocrania, Ocular anomalities).

NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME

We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachy-camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. (C) 1994 Wiley-Liss, Inc.

Demographic of short gut syndrome: Increasing demand is not followed by referral of potential candidates for small bowel transplantation

Background. Despite improvements in small bowel transplantation (SBTx), early referral of patients with irreversible intestinal failure (IF) remains a major obstacle. In this study we evaluated the demand for SBTx among seven surgical pediatric centers located at least 200 km from our center.Methods. From 1997 to 2001, 640 patients have been treated for neonatal diseases, including 248 who underwent a minor or major intestinal resection. Twenty-four patients with major resections presented with short gut syndrome, requiring total parenteral nutrition (TPN). The greatest demand was in postsurgical neonates with necrotizing enterocolitis, gastroschiesis, onphalocoeles, or midgut volvulus, and in three adults with postradiotherapy arteritis (n = 2) and mesenteric vein thromboses (n = 1). The median length of residual bowel after resection was 20 to 30 cm, without an ileocecal valve. Four patients were referred for SBTx evaluation; three died while awaiting a donor; 20 were not referred, among whom 14 died of TPN complications.Results. Approximately 62 children per year require nutritional support for IF, most of whom develop complications related to TPN. Because many patients who are TPN-dependent develop complications, we believe that early referral would reduce mortality.Conclusions. Greater medical awareness about the feasibility of SBTx procedures and earlier referral may improve results and quality of life after transplant.

Cauda equina syndrome after spinal tetracaine: Electromyographic evaluation-20 years follow-up

CAUDA equina syndrome (CES) has long been recognized as a rare complication of spinal anesthesia.(1) CES has been described after administration of spinal anesthetics with lidocaine(2) and bupivacaine.(3) In 1991,(4) CES was reported after continuous spinal anesthesia with 1% tetracaine. In 1980, at our university hospital, six adult female patients underwent perineal gynecologic surgery using a spinal anesthetic of 2 ml tetracaine, 1.2%, in 10% glucose. The concentration of the injected tetracaine was unknown by the anesthetists. In all cases, lumbar puncture was performed at the L3-L4 interspace with a disposable spinal needle while the patients were in the sitting position. CES was first diagnosed 72 h or later postoperatively; previous diagnosis was not possible because patients had an indwelling urethral catheter. The diagnosis of CES was confirmed in all patients. During the past year, after institutional approval and informed consent, clinical, magnetic resonance imaging, electromyographic examinations, and conduction studies were performed in three of the above patients. Examinations were not possible on the other three patients because one had recently died, another could not be located, and the third refused to participate. T1 and T2 magnetic resonance image readings were obtained with Gadolinium contrast from a 0.5 Tesla General Electric apparatus (General Electric, Tokyo, Japan). Bilateral sensory and motor conduction studies of the sciatic nerve branches were obtained using a two-channel Nihon-Kohden Neuropack 2 (Nihom-Kohden Corporation, Tokyo, Japan). Electromyography was performed in accordance with conventional techniques.(5,6)

Auditory processing disorder in perisylvian syndrome

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)