A young man presented with high libido for 3 years, associated with preoccupation with sexual thoughts combined with his pursuit of pornographic materials. He had strong psychological cravings for and had spent large amount of money on sex, resulting in a dispute with his family. There were no mood or psychotic symptoms. Medical history revealed recent diagnosis of gonococcal urethritis. Cognitive assessment showed subtle deficiencies in reasoning and executive functions. There was occasional use of alcohol. Sexual addiction with comorbid mild intellectual disability was diagnosed, and pharmacological as well as psychological management were started.
The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians for ages. Our patient was born at term via caesarean-section with a birth weight of 1.95 kilograms. She had mild laryngomalacia, gastroesophageal reflux disease and seizures. Physical signs included microcephaly, hemangioma, low set ears, cleft palate, micrognatia and the typical BOS posture. Chromosomal analysis showed 46 xx -Bohring-Opitz Syndrome overlapped with C- syndrome. Goal-directed holistic care with integration of parent/carer training was started very early. She succumbed to a Respiratory- Syncitial-Virus and Pseudomonas pneumonia complicated with sepsis at the age of two years and 11 months.
An Indian family with all 3 sons having the fragile X syndrome is reported. The frequency of fragile X cells observed ranged from 4·16%. The phenotypically normal mother, although an obligate carrier, did not express any fragile X chromosomes in her Iymphocyte cultures. The range of mental retardation in affected
hemizygous males and heterozygous females as well as the significance of the fragile X chromosome in prenatal diagnosis are discussed.