Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.

Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.

Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation of holoprosencephaly (HPE). Some reported families had severe cases of HPE in some members and SMMCI in others. Mutations of Sonic Hedgehog (SHH) have been documented in these families. SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala.

[Home-coming diarrhea. Presentation of a clinical case]. / Diarrea di ritorno. Presentazione di un caso clinico.

The Homing Diarrhea, described by Duhamel and Rey in 1980, represents a gastrointestinal disease which affects children of emigrants coming back from a trip to their country of origin and may become so serious to cause death secondary to dehydration or septicemia. The poor nutritional conditions at the beginning of the trip (secondary to low socioeconomic situation) and the onset of acute enteritis during the travel, caused by Salmonella or Shigella, E. Coli, Campylobacter, Myceti, Giardia Lamblia, Rotavirus, are considered the main and triggering factors of the homing diarrhea. Intensive care can be necessary to interrupt the sequence constituted by diarrhea-malnutrition-dehydration. Therefore prophylaxis, including good basal nutritional conditions and the use of p.o. glucose-electrolyte solutions at the beginning of the acute enteric episode appears to be the most effective measure to prevent the onset of the disease. A case of homing diarrhea is reported.

[Endoscopic study in the diagnosis of nodular lymphoid hyperplasia of the colon in childhood]. / L'indagine endoscopica nella diagnosi di iperplasia nodulare linfoide del colon in età pediatrica.

Colonic lymphoid hyperplasia has been diagnosed in 10 children, aged from 11 months to 12 years, with heterogeneous clinical symptoms such as rectal bleeding, abdominal pain, chronic diarrhea and constipation. The Authors underline the value of endoscopy in the diagnosis of colonic lymphoid hyperplasia which also permitted to exclude other colonic diseases often misdiagnosed by double contrast barium enema (familial polyposis, lymphoid polyps, Crohn's disease, Ulcerative colitis). In This study the Authors discuss the probable etiopathogenetic mechanisms and the prognosis of colonic lymphoid hyperplasia: it should be considered as a benign conditions reflecting a non-specific response to different stimuli.

[Clinical approach to constipation: proposal of a diagnostic and therapeutic protocol]. / Contributo all'inquadramento clinico della stipsi: proposta di protocollo diagnostico e terapeutico.

A study concerning constipation in children has been carried out in the University Department of Pediatrics and in the Division of Pediatric Surgery of Parma with the aim of reaching an homogeneus approach: it has been applied to 20 children up to now observed for such a problem. According to clinical and anamnestic criteria, children were divided into 3 groups on the basis of different degree of constipation: 1) moderate, 2) mild, 3) severe. Children belonging to the 2nd and 3rd group underwent barium enema and rectal manometry; two cases of ultrashort Hirschprung's disease and 7 cases of functional megarectum were diagnosed. Different treatment have been employed for each group and good results were observed in 18 cases. The AA. briefly discuss the different aspects concerning constipation and its therapy in childhood including diet, drugs, psychotherapy and surgical treatment.

[Peroral duodeno-jejunal biopsy in children. Indications and personal cases]. / La biopsia duodeno-digiunale perorale nel bambino. Indicazioni e casistica personale.

In this study we report our experience with 50 intestinal biopsies carried out in 35 children in a 14 months period (October 1979-December 1980) and we also describe the technique we use. The biopsy has been performed by two operators using the Crosby capsule, placed at the duodenojejunal flexure under fluoroscopic screening. For sedation we used oral Promazine and viscous xylocaine and i.v. Metoclopramide and Diazepam; the sedation has been classified in 4 degrees and resulted very good in 40 cases, good in 8 cases and sufficient in 2. The biopsy specimens has been examined with dissecting and light microscope and demonstrated 14 sub-total villous atrophy, 2 severe partial villous atrophy, 5 partial villous atrophy and 29 normal villous morphology. By this technique we made a diagnosis of Coeliac disease in 8 cases, suspected Coeliac disease in 3 cases, Dermatitis Herpetiformis in 3 cases and cow's milk proteins intolerance and post-enteritis syndrome in 1 case. No complications occurred during or after intubation. The AA. confirm the diagnostic value of this investigation, its safety and its very high degree of sensitivity superior to any other test of intestinal absorption.