Macrodactilia: estudo retrospectivo de quatro casos / Macrodactyly: a retrospective study of four cases

INTRODUÇÃO: A macrodactilia é uma anomalia rara e de etiologia desconhecida. Os primeiros casos foram descritos, em 1821, por Klein. Representa aproximadamente 1% de todas as anomalias congênitas. Surge no nascimento e caracteriza-se pelo crescimento dos dedos das mãos, dos pés ou de todo o membro; entretanto, pode se apresentar mais tardiamente, com os sintomas de compressão de nervo, podendo associar-se à síndrome do túnel do carpo. MÉTODOS: Estudo retrospectivo de quatro casos de macrodactilia atendidos no Hospital da Santa Casa Misericórdia de Campo Grande, MS, nos últimos 10 anos. RESULTADOS: Descrevemos quatro casos de macrodactilia, sendo três em quirodáctilos e um acometendo primeiro pododáctilo. Todos os pacientes tratados com procedimentos cirúrgicos, um dos casos com amputação de falanges e metacarpo. CONCLUSÕES: É recomendada a amputação como opção cirúrgica em alguns casos e o tratamento precoce da síndrome do túnel do carpo quando presente.

INTRODUCTION: Macrodactyly is a rare anomaly of unknown etiology. The first cases were described in 1821 by Klein. It represents approximately 1% of all congenital anomalies. It appears at birth and is characterized by excessive growth of the fingers, toes, or of the entire limb; however, its appearance may be delayed, with symptoms of nerve compression, and may present with carpal tunnel syndrome. METHODS: Retrospective study of four cases of macrodactyly treated at the Hospital da Santa Casa Misericórdia in Campo Grande, MS, in the last 10 years RESULTS: We describe four cases of macrodactyly: three in the fingers and one affecting the first toe. All patients were treated with surgical procedures, one with amputation of phalanges and metacarpals. CONCLUSIONS: Amputation is a surgical option recommended in some cases, as is the early treatment of carpal tunnel syndrome.

Phenotypic and immunohistochemical characterization of sarcoglycanopathies

INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup of the limb-girdle muscular dystrophies, are caused by mutations in sarcoglycan genes. Mutations in these genes cause secondary deficiencies in other proteins, due to the instability of the dystrophin-glycoprotein complex. Therefore, determining the etiology of a given sarcoglycanopathy requires costly and occasionally inaccessible molecular methods. OBJECTIVE: The aim of this study was to identify phenotypic differences among limb-girdle muscular dystrophy patients who were grouped according to the immunohistochemical phenotypes for the four sarcoglycans. METHODS: To identify phenotypic differences among patients with different types of sarcoglycanopathies, a questionnaire was used and the muscle strength and range of motion of nine joints in 45 patients recruited from the Department of Neurology - HC-FMUSP (Clinics Hospital of the Faculty of Medicine of the University of São Paulo) were evaluated. The findings obtained from these analyses were compared with the results of the immunohistochemical findings. RESULTS: The patients were divided into the following groups based on the immunohistochemical findings: a-sarcoglycanopathies (16 patients), b-sarcoglycanopathies (1 patient), y-sarcoglycanopathies (5 patients), and nonsarcoglycanopathies (23 patients). The muscle strength analysis revealed significant differences for both upper and lower limb muscles, particularly the shoulder and hip muscles, as expected. No pattern of joint contractures was found among the four groups analyzed, even within the same family. However, a high frequency of tiptoe gait was observed in patients with a-sarcoglycanopathies, while calf pseudo-hypertrophy was most common in patients with non-sarcoglycanopathies. The a-sarcoglycanopathy patients presented with more severe muscle weakness than did y-sarcoglycanopathy patients. CONCLUSION: The clinical differences observed in this study, which were associated with the immunohistochemical findings, may help to prioritize the mutational investigation of sarcoglycan genes.

Limb body wall complex.

Limb body wall complex (LBWC) is a rare clinicopathological entity, representing a compound anomaly pattern in ventral body wall defects. The authors report a case of LBWC diagnosed in early antenatal period. The pregnancy was terminated following the diagnosis. Fetal autopsy findings were typical of LBWC.

Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis

Hereditary renal adysplasia [HRA] is a rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low-set ears, and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thick skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dysplasia, agenesis of both ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association, and Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis

Mermaid syndrome with amniotic band disruption.

An association of Amniotic Band Disruption Sequence and Mermaid Syndrome in a newborn having multiple congenital anomalies is being reported. The newborn had aberrant string like tissues attached to the amputed fingers and toes. Adhesions of amniotic bands had disrupted the fetal parts especially anteriorly in the midline, causing multiple anomalies. Apart from these features of Amniotic Band Disruption Sequence, the newborn had complete fusion of the lower limbs by cutaneous tissue, a characteristic of Mermaid Syndrome (Sirenomelia). Associated malformations were anal stenosis, rectal atresia, small horseshoe kidney, hypoplastic urinary bladder and a bicomuate uterus. The single umbilical artery had a high origin, arising directly from the aorta just distal to the celiac axis, which is unique to sirenomelia. Theories put forward regarding the etiopathogenesis of both the conditions are discussed.