No abstract

Moyamoya disease is a rare cerebrovascular disease characterized by progressive occlusive cerebral arteritis affecting the distal internal carotid arteries near the circle of Willis. A collateral circulation develops around the blocked vessels which appear as a "puff of smoke".

Marriage in Indian society is a religious duty. Consanguineous marriage has been a long standing habit among many Indian families. Many studies have suggested a strong association between consanguineous marriages and the incidence of autosomal recessive diseases and congenital anomalies. According to studies 30-40% of the marriages in Andhra Pradesh are consanguineous. Recently the awareness of consequences of consanguineous marriages among the educated families has led to change in attitudes of many people about this age old practice of interbreeding in the traditional Indian society. OBJECTIVES: This study is aimed at determining at the prevalence of consanguineous marriages, type of consanguinity and the prevalence of congenital anomalies among offspring of consanguineous and non-consanguineous parents and also to study the effect of consanguinity on foetal loss and neonatal morbidity and mortality. MATERIALS AND METHODS: Prospective longitudinal hospital based study conducted at the Government General Hospital (GGH), Guntur, A. P over a period of 2months from July to August 2012. We screened 1025 babies delivered in the obstetrics dept for malformations and relevant demographic and obstetric data was obtained from the parents. Infants with congenital anomalies of Indian nationality were included in the study. Babies of mothers having history of hereditary diseases, sexually transmitted diseases and exposure to drugs were excluded from the study. Institutional ethics committee approval was obtained. Out of 1025 infants screened, 200 babies had malformations. RESULTS: Malformed babies were noted in 33.8% of consanguineous marriages versus 15.1 % in controls (Non-consanguineous marriages) with P value of 0.0000001 which is statistically significant.

Andersen Tawil Syndrome (ATS) is a very rare type of periodic paralysis; the authors present a case report from South India with features that have not been reported earlier. This case suggests many unexplored hypotheses for the disease and argues the need for physician sensitization of this entity.

Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The main features of the disease are shortening of the proximal long bones (Rhizomelia), punctate calcifications located in the epiphyses of long bones (Chondrodysplasia) and in the soft tissues around joints and vertebral column, vertebral clefting, dysmorphic face, and severe growth retardation, cervical spinal stenosis may also rarely be present. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide us to take management decisions. We report a rare case of RCDP diagnosed in a newborn. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with CDP.