Mandibuloacral dysplasia type A in childhood.

Mandibuloacral dysplasia type A (MADA) is characterized by growth retardation, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy. Owing to its slowly progressive course, the syndrome has been recognized in adults, and pediatric case reports are scarce. We present the clinical case of two children in whom the diagnosis of MADA was made at an unusually early age. A 5-year-old boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4-year-old girl presented with round face and chubby cheeks, thin nose, bulbous fingertips, and type A lipodystrophy. In both, a skeletal survey showed wormian bones, thin clavicles, short distal phalanges of fingers and toes with acro-osteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A, (p.R527H) in exon 9 of the LMNA gene. Thus, the phenotype of MADA can be manifest in preschool age; diagnosis may be suggested by short and bulbous fingertips, facial features, and lipodystrophy, supported by the finding of acral osteolysis, and confirmed by mutation analysis.

Massive hemobilia and papillomatosis of the gallbladder in metachromatic leukodystrophy: a life-threatening condition.

Polyposis of the gallbladder is rare during childhood. This condition can be associated with three other conditions: metachromatic leukodystrophy, Peutz-Jeghers' syndrome, and pancreaticobiliary maljunction. We report the case of a child with hemobilia in metachromatic leukodystrophy, which rendered cholecystectomy necessary. Macroscopically, the gallbladder measured 4.6 cm in length and showed an opaque serous surface and focal brown petechiae. Moreover, a yellow polypoid lesion of 2 cm in diameter and a diffuse thickening of the fundus wall were observed. Many reports describe the importance of the association of gallbladder papillomatosis with metachromatic leukodystrophy, but only three cases presented with massive intestinal bleeding, such as our young patient had. It is thus imperative that this life-threatening condition should be well known.

Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The most common anomaly of the feet is the presence of four toes. The hands are affected bilaterally in 77% of the cases. The most characteristic anomaly is the synostosis of the fourth and fifth metacarpals. To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature.

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.

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.

Double-blind study of nimesulide in divers with inflammatory disorders of the ear, nose and throat.

200 divers of either sex, aged 18 to 54 years, entered a double-blind study to compare the efficacy and tolerability of nimesulide 200 mg/day with those of seaprose S 60 mg/day in the treatment of nonbacterial inflammatory disorders of the ear, nose, and throat. At the end of the 1-week treatment period, both drugs were judged to be effective, with improvements and, in most cases, complete remission of all symptoms observed. Nimesulide showed greater clinical efficacy, and both drugs were well tolerated.

Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.

The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.

Oculo-auriculo-vertebral spectrum in Klinefelter syndrome.

We report a boy with classical 47,XXY Klinefelter syndrome (KS) and oculo-auriculo-vertebral spectrum (OAV). Two patients with KS and OAV were reported previously. Also, the combination of bilateral aplasia of the mandibular ramus and condyle and KS has been documented. The present observation supports the view that the cause of hemifacial microsomia appears heterogeneous and that OAV may be part of the spectrum of craniofacial anomalies associated with KS.

Food and pentagastrin stimulation of gastrin, pepsinogen I and acid in children with primary duodenal ulcer.

Six cases of duodenal ulcer were studied in male children (mean age 8.8 yrs., range 6-12 yrs., mean weight 29.8 kg). All were submitted to X-ray examination and/or digestive endoscopy. Ten healthy children, matched by weight, age and sex were chosen as controls. All children underwent a standardized protein meal to evaluate serum gastrin and pepsinogen I response and the pentagastrin test for acid secretion. The serum gastrin level was found to be similar in the two groups (normal children and duodenal ulcer) both in the fasting state and after food stimulation, whereas the basal and after-meal serum pepsinogen I values were statistically higher in the duodenal ulcer group (p less than 0.01). The pentagastrin test showed a basal, maximal and peak acid output significantly lower in controls than in the subjects with primary duodenal ulcer. The results confirm that elevated gastric acid response is already present in duodenal ulcer of childhood and seems to be its cause rather than its consequence. Our finding of an already elevated pepsinogen I level, coupled with the already reported family histories of the disease, further support an inherited basis for duodenal ulcer in childhood.

[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.

[Exogenous and endogenous gastric secretion in children with primary duodenal ulcer]. / Secrezione gastrica esogena ed endogena in bambini con ulcera duodenale primaria.

Twelve cases of duodenal ulcer were studied in children, 11 male and 1 female (mean age 10 +/- 2.7 years) (mean weight 30 +/- 3.7 Kg.) (Group 1). All were submitted to x-ray examination and/or digestive endoscopy. Twenty healty children, matched by weight, age and sex were chosen as controls (Group 2). All children underwent a standardizet protein meal to evaluate serum gastrin and pepsinogen I response and the pentagastrin test for gastric acid secretion. The serum gastrin levels were found to be without significative differences in the two groups, both in the fasting state (Group 1: 77 +/- 16 pg/ml vs. Group 2: 58 +/- 12 pg/ml) and after food stimulation (Group 1: 110 +/- 22 pg/ml vs. Group 2: 88 +/- 47 pg/ml), whereas the basal serum pepsinogen I (Group 1: 74 +/- 10 ng/ml vs. Group 2: 43 +/- 1.8 ng/ml) and after meal (Group 1: 83 +/- 14 ng/ml vs. Group 2: 49 +/- 2.1 ng/ml) values were statistically higher in the duodenal ulcer group (p less than 0.01). The pentagastrin test showed a statistically difference in MAO (Group 1: 0.370 +/- 0.10 mmol/H+/hr./Kg. vs. Group 2: 0.210 +/- 0.11 mmol/H+/hr./Kg. - p less than 0.001) and PAO (Group 1: 0.480 +/- 0.13 mmol/H+/hr./Kg. vs. Group 2: 0.351 +/- 0.12 mmol/H+/hr./Kg. - p less than 0.005) between the groups. The results confirm that elevated gastric acid response is already present in duodenal ulcer of children and seems to be its cause rather than its consequence. Our finding of an already reported family histories of the disease, further support an inherited basis for duodenal ulcer in children.

[Proposal for difficult nursing in neonatal Hirschsprung's disease]. / Proposte per il nursing difficile nel m. Hirschsprung neonatale.

Often the Hirschsprung's disease presents severe neonatal manifestations: enterocolitis, intestinal occlusion. The authors experienced a conservative treatment in 3 patients with Hirschsprung's disease using elemental diets. This behaviour avoided the colostomy, otherwise necessary with a normal nursing.

[Detection of coeliac disease in the late childhood. Discussion on clinical presentation and diagnostic criteria. (Preliminary results) (author's transl)]. / Malattia celiaca a riscontro tardivo. Discussione sulla presentazione clinica ed i criteri diagnostici. (Risultati preliminari).

In this study 9 children ranging from 8 to 15 years of age affected by "short stature" not due to endocrine diseases underwent intestinal biopsy. In 5 of then a subtotal villous athrophy (STVA) has been shown and coeliac disease then diagnosed. The AA. underline the fact that in children with short stature, anamnestic and laboratoristic criteria are unreliable in suspecting the disease and stress the importance of jejunal biopsy as part of the diagnostic work-up in all cases of short stature which find any other clearcut explanations. The possibility monosymptomatic coeliac disease in the late childhood is in fact by now supported by documentary evidence.

[Yersinia enterocolitica infection in thalassemia. Report of one case (author's transl)]. / L'infezione da Yersinia enterocolitica in corso di talassemia mayor. Descrizione di un caso.

The Authors describe a rare case of Yersinia Enterocolitica (Y.E.) infection in a child affected by thalassemia. The onset of the disease was that of an acute enteritis with diarrhea, fever, vomiting and abdominal pain which subsequently evolved in a picture consistent with an acute appendicitis. Laparotomy was then performed and showed a marked suppurative mesenterial lymphadenitis with mild appendicular inflammation and Y.E. infection was suspected. Culture from lymphonodes confirmed the presence of Y.E. sensitive to tobramicin and CTM. The use of these chemiotherapic agents has been followed by a rapid clinical improvement. Our recent experience could suggest some practical considerations: 1) Culture of Y.E. should be routinely performed in all children affected by acute gastroenteritis and particularly in those, above 5 years of age, in which the infection can simulate acute appendicitis. 2) Special attention should be carried out in children affected by thalassemia who can easily present more serious disease often complicated by septicemia. 3) Therapy depends on the form and severity of the disease and should be always guided by in vitro sensitivity test because of the possibility of resistence of Y.E. against the most frequently used antibiotics in septicemia.

[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.

[Emergency endoscopy in children: experience of a digestive endoscopy department]. / Endoscopia in urgenza in età pediatrica: esperienza di un servizio di endoscopia digestiva.

Many changes and advances have been achieved in the last years, so that emergency endoscopy has now a definite role also in the diagnosis and treatment of diseases in childhood. In order to determinate main indications to endoscopic examination, and which are the most useful diagnostic and therapeutic measures that should be performed, we examined the records of 202 patients (aged 1 day-14 years) undergone emergency endoscopy from June 1979 to January 1990. Patients were referred to endoscopy because of foreign bodies or caustic ingestion, hematemesis, and in one patient a suspected intussusception. We didn't record any complication. Our study shows that emergency endoscopy has a definite role also in pediatric age and gives a diagnostic and therapeutic gain in the management of many diseases.

[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.