Displasia cleidocraniana: relato de doze pacientes / Cleidocranial dysplasia: report of twelve patients

Objetivo: Analisar os achados clínicos e radiológicos da displasia cleidocraniana. Método: A Unidade de Genética do ICr-HCFMUSP, em conjunto com o setor da Radiologia, estudou 12 pacientes pertencentes a 8 famílias com displasia cleidocraniana...

Objectives: To analyse the clinical and radiological finding of cleidocranial dysplasia. Methods: The Genetics Unit of ICr-HCFMUSP, along with the Radiology department, performed the study of 12 patients from eight families of cleidocranial dysplasia...

Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases

INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68 percent) - all typical cases. In 8 patients (32 percent) (6 atypical and 2 typical), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. DISCUSSION: Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler -- MPS I (1 case); Hunter -- MPS II (2 cases); Sanfilippo -- MPS III (2 cases); Morquio -- MPS IV (4 cases); Maroteaux-Lamy -- MPS VI (9 cases); and Sly -- MPS VII (1 case). DISCUSSION: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability

Clinical and radiological aspects in Melnick-needles syndrome

A sindrome de Melnick-Needles e uma displasia esqueletica ligada ao X e letal no sexo masculino. Caracteriza-se pela presenca de um facies tipico e dos seguintes achados radiologicos : esclerose dos ossos da base do cranio e mastoide, tibia em forma de "S", irregularidades corticais e costelas com aspecto de fita ("ribbon-like"). A maioria dos 48 casos ja relatados na literatura (bem documentados), eram esporadicos, observando-se transmissao parenteral em apenas 11 familias...

Síndrome unha-patela: estudo de duas famílias e revisäo de literatura / Nail-patella syndroem: study of two families and literature review

A síndrome unha-patela (SUP) é uma condiçao rara com padrao de herança autossômica dominante que se caracteriza pela tétrade: displasia ungueal, hipoplasia ou agenesia de patela, displasia do cotovelo e esporoes ósseos no íliaco. As principais complicaçoes da USP consistem nas deformidades esqueléticas e na nefropatia. Aproximadamente, 45 por cento dos pacientes com hipoplasia da patela necessitarao de cirurgia para o realinhamento desta. A doença renal pode estar associada à SUP, embora a maioria dos pacientes seja assintomática e apresente somente proteinúria. Foram estudadas duas famílias: uma com um caso esporádico e uma com três afetados pela SUP.

Glicogenose tipo I assintomática e infecçöes de repetiçäo / Glycogenosis type I and recurrent infections

Relata-se o caso de um portador assintomático de Glicogenose tipo I com otites e laringites de repetiçäo, furunculose, broncopneumonia e derrame pleural, que evoluiu para septecemia e êxito letal. A maneira pela qual o caso se apresentou, constituindo, basicamente, um achado de necrópsia, despertou interresse da equipe no sentido de ficar mais atenta a quadros de infecçöes de repetiçäo em que a glicogenose é uma possibilidade diagnóstica

Atresia de coanas: relato de um caso em que o uso do misoprostol com abortivo falhou / Choanal atresia: case report

A utilizaçäo do misoprostol como abortivo, em sociedades onde o aborto é considerado uma prática ilegal, vem causando precupaçäo, em relaçäo aos seus possíveis efeitos teratogênicos. A dificuldade em formular, com segurança, uma hipótese diagnóstica adequada em um caso de atresia de coanas, cuja mäe utilizou este análogo de prostaglandina Eû(PGEû) com finalidade abortiva, despertou nosso interesse em relatá-lo, contribuindo, assim, para o estudo de possíveis efeitos teratogênicos das prostaglandinas e seus análogos