A Case Report of Septo-Optic Dysplasia (De Morsier's Syndrome): The Importance of Establishing a Precise Diagnosis in Adults with Severe and Profound Mental Retardation. (the American Academy of Developmental Medicine and Denistry)

Article excerpt

De-institutionalization of adults with mental retardation who are also medically complex has resulted in an increased demand for community-based primary care physician services for management of health related issues relevant to that patient population. Since health conditions which occur in the previously institutionalized adult with mental retardation are relatively unknown to the average community practitioner, there is a need for more information in the medical literature read by those physicians who are most likely to provide services to these patients. The case reported here (Septo-Optic Dysplasia) illustrates the point that accurate etiologic diagnosis can make a significant difference on how the patient is subsequently clinically managed.

A significant transfer of services from institutional to community-based settings has occurred during the past 20 years for adults with mental retardation. As a result, primary care physicians in the community are now being asked to provide health services to a population of individuals that had previously received health care out of the mainstream of usual generic practice. In addition, because these patients had received medical services by nontraditional providers, there is relatively little clinical data to guide the practitioner in the community. Many of these previously institutionalized individuals have never been adequately evaluated to determine the etiology of the brain dysfunction that caused the mental retardation in the first place, and if an evaluation had been performed it was not based on modern diagnostic methods and technology. As de-institutionalization continues, there will therefore be a progressive need for community-based primary-care physicians to become aware of the various diagnostic possibilities found in those adults with mental retardation who will be seeking their professional services.

The importance of establishing a precise etiology has been addressed by others, and is not merely an academic exercise. Important genetics counseling and clinically significant treatment information can be derived from determination of the cause of a person's developmental disability, even when that determination is made in adulthood.

The etiologic diagnosis of the case reported here (Septo-Optic Dysplasia) was made post-mortem. Had the diagnosis been made before death, the clinical management might have been different. This report therefore underscores the importance of establishing a diagnosis even in adults with profound mental retardation. Furthermore, it is suggested that neuropathological evaluation post-mortem might play an important role in much-needed expansion of a medical data base pertaining to adults with severe developmental disabilities.

CASE REPORT: P.R. was a 22-year-old man who resided in a 650-bed State institution for the mentally retarded located in Clinton, NJ since the age of 11.

He was an only child, the product of a normal full-term gestation and spontaneous delivery and was felt to be normal at birth. There was no history of maternal substance abuse. The pregnancy was however complicated by the fact that the mother was battered during the first trimester and sustained abdominal trauma on more than one occasion. In addition, even before gestation occurred, the mother developed an anxiety disorder from spousal abuse, which resulted in frequent, premature beats requiring treatment with oral quinidine.

There was no other maternal illness during the pregnancy. Chromosome analysis revealed a 46 XY pattern. It was noted by his parents that at six months of age he appeared to be visually impaired and was not developing normally. Medical evaluation at 12 months of age revealed that he was legally blind. At that time he was not able to sit and subsequently was never able to walk because of severe spasticity. At 24 months of age he developed generalized seizures and was placed on phenytoin and Phenobarbital. …