Premarital Health Counseling: A Must.

Premarital Health Counseling (PMHC) is emerging as a growing trend worldwide. The couples are provided with accurate and unbiased information and assistance, who are planning to get marry with the aim of screening, educating, and counseling about nutritional disorders, communicable diseases, medical conditions, hereditary/genetic disorders, and guiding for a healthy pregnancy. Premarital screening and adequate counseling are essential for changing attitudes toward consanguineous marriage particularly in places where consanguineous and “tribal” marriages are common, resulting in a high incidence of genetic disorders. Although making PMHC obligatory in India may appear to be a very exciting and promising proposal, its implementation still has various ethical issues and other barriers that need to be addressed.

Concurrent retinitis pigmentosa and pigmented paravenous retinochoroidal atrophy phenotypes in the same patient.

We report a unique case of a patient with retinitis pigmentosa (RP) phenotype in one eye and pigmented paravenous retinochoroidal atrophy (PPRCA) phenotype in the other eye. We describe in detail the symptoms, clinical findings, and investigations done for a 32‑year‑old Indian woman. This patient had phenotypical picture resembling typical RP in the right eye, with characteristic symptoms of night blindness and constricted field of vision and a nonrecordable electroretinogram (ERG). The left eye of the same patient revealed typical PPRCA phenotype, with no night blindness, normal field, and normal ERG. RP and PPRCA phenotypes are part of the same spectrum of genetic disorder. However, it is rare to see them coexist in the same patient.

Manejo quirúrgico en un paciente con neurofibromatosis tipo 1 / Surgical management in a patient with neurofibromatosis type 1

El presente trabajo tiene por objetivo dar a conocer el manejo de una paciente con una enfermedad genética del grupo de las facomatosis, con predominio de lesiones espinales. Se trata de una mujer de la tercera edad, que durante su desarrollo infantil y puberal le aparecieron lesiones cutáneas en forma de manchas y tumores pediculados distribuidos en todo el cuerpo; posteriormente se instauró una paraparesia espástica. A los 3 años de encamada se ingresó en Instituto Superior de Medicina Militar "Dr. Luis Díaz Soto" y se estudió. La resonancia magnética nuclear realizada diagnosticó 2 lesiones hiperintensas intrarraquídeas, una de localización cervical que le ocasionaba compresión medular, por lo cual se le realizó una laminectomía con exéresis de la lesión y la consiguiente recuperación neurológica. La paciente volvió a caminar, recuperó sensibilidad propioceptiva y se encuentra pendiente de la intervención de la otra lesión en región craneoespinal. El informe patológico concluyó neurofibroma. Con este caso presentado se demuestra que la resección de los neurofibromas espinales en los pacientes con neurofibromatosis tipo I, permite una recuperación de las funciones neurológicas afectadas por el compromiso neural.

This paper is aimed at making known the management of a female patient with a genetic disease of the phacomatosys group, with predominance of spinal injuries. This elderly woman during her childhood and puberty presented skin lesions in the form of spots and pediculated tumors all over her body. Later on, she developed a spastic paraparesia. Alter being bedridden for 3 years, she was admitted at "Dr. Luis Díaz Soto" Higher Military Medicine Institute to be studied. Two intrarachidian hypertensive lesions were diagnosed by magnetic resonance imaging. One of them was a cervical lesion that caused her a medullary compression that was treated by laminectomy with exeresis of the lesion and the subsequent neurological recovery. The patient walked again and recovered her proprioceptive sensitivity and she has to be operated on of the other lesion in the craniospinal region. The pathological report confirmed the existence of a neurofibroma. On presenting this case, it was proved that the resection of the spinal neurofibroma in patients with type I neurofibromatosis allows a recovery of the neurological functions affected by the neural compromise.