case report of anorexia nervosa associated with wilson's disease
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Case Report of Anorexia Nervosa Associated with W i Isons Disease
Harry E. Gwirtsman Jordan Prager Robert Henkin
(Accepted 1 February 1992)
Wilsons disease is a recessively inherited disorder of copper metabolism with prominent hepatic, hematopoetic, central nervous system (CNSI, and ocular involvement. Psychiatric manifestations are notoriously variable. The following case history of a patient wi th both anorexia nervosa and Wilsons disease is presented and discussed in the context of organic CNS lesions associated with anorexia nervosa-like syndromes. 0 1993 by / o h WiIey & Sons, Inc.
The central nervous system (CNS) abnormalities of Wilsons disease (WD) are both neurological and psychiatric, presenting as the initial manifestation in 40% and 10-51% of patients, respectively (Scheinberg & Sternlieb, 1984; Sass-Kortsak & Bearn, 1978; Dening & Berrios, 1989). The psychopathological features of WD are varied, most commonly abnormal behavior, personality change, depression, schizophrenia-like psy- choses, and organic dementia (Scheinberg & Sternlieb, 1984; Dening & Berrios, 1989; Medalia & Scheinberg, 1989). Psychopathology associated with WD appears generally in neurologically impaired patients (Medalia & Scheinberg, 1989), and many of the psy- chiatric manifestations seem to have an organic basis (Dening & Berrios, 1989). Never- theless, 13-20% of patients are evaluated by a psychiatrist before the diagnosis of WD is made, and only in half of these are the symptoms and signs correctly ascribed to an organic disorder (Dening & Berrios, 1989).
In anorexia nervosa (AN), the serum copper is often slightly lower than normal, al- though serum ceruloplasmin is usually normal. As a consequence, serum copper levels usually respond to improved diet (Casper, Kirschner, Sandstead, Jacob, & Davis, 1980). AN has, to our knowledge, never been mentioned as a presenting syndrome in the neurologically impaired WD patient. We present below a case history of a patient who demonstrated clear-cut evidence of AN, and who on subsequent evaluation was
Harry E. Gwirtsman, M.D., i s Chief, Mood Disorders Program, Mood, Anxiety, and Personality Disorders Re- search Branch, National Institute of Mental Health. Jordan Prager, M.D., i s Assistant Professor of Neuroradiology, Department of Radiology, University of Chicago, Chicago, Illinois. Robert Henkin M.D., Ph.D., is Director of The Taste and Smell Clinic, Washington, D.C. Address reprint requests to Dr. Gwirtsman at the Mood, Anxiety, and Personality Disorders Research Branch, Division of Clinical Research, NIMH, Room 10C-24, 5600 Fisher lane, Rockville, MD 20857.
lnternational lournal of Eating Disorders, Vol. 13, No. 2, 241 -244 (1 993) 0 1993 by John Wiley & Sons, Inc. CCC 0276-3478/93/02024144
242 Cwirtsman, Prager, and Henkin
discovered to have WD. We will discuss our findings in the context of organic CNS lesions associated with AN-like syndromes.
A 22-year-old white female was admitted to the Clinical Center of the National Insti- tutes of Health for evaluation and treatment of an eating disorder. She had had diffi- culties with food since childhood, and was described by her mother as a picky eater. As far back as she could remember, she was overconcerned with food, and nothing else seemed to matter. By age 16 years, she weighed approximately 90 lb (40.8 kg) at her full height of 50 (152 cm). At age 17 years, she gained 5 lb, and when told by a friend that she had gained some weight, began to diet. Over the next 2 years, she gradually lost weight to 76 lb, mostly by rigorous dieting, but she also began to occa- sionally binge eat, to vomit her food, and to use laxatives for weight control. At age 19 years, she was admitted to a general hospital weighing 70 lb and was discharged at 78 lb. She began outpatient psychotherapy and was able to regain weight to 90 lb.
However, because of family turmoil eventuating in the separation of her parents, she again lost weight purely by dietary restriction to 73 lb. She was rehospitalized for the second time in an eating disorders program where she gained to 92 lb. Following dis- charge from this program, she was again 75 lb within 6 months.
The patient also gave a history of multiple allergies, moderate to severe mental de- pression, and a loss of taste and smell. There was no history of drug abuse, alcohol abuse, or use of diuretics. Menstrual periods had ceased 5 years prior to admission.
Admission physical examination revealed cachexia, pulse of 52, weight 31.5 kg (69.5 lb), subjective lower abdominal pain without localized tenderness, decreased motor strength in all extremities, and areas of erythema and excoriations of the skin. Mental status was remarkable for depressed mood, ruminative thought process, and rapid speech. Laboratory examination revealed mildly elevated liver enzymes, including se- rum glutamic oxaloacetic transaminase (SGOT) of 94 (normal
Anorexia Nervosa and Wilsons Disease 243
was able to maintain a weight of 41.0-41.5 kg for 4 weeks prior to discharge. She was begun on D-penicillamine 250 mg daily and advanced to 750 mg daily before discharge.
DISC U SSlO N
Our patient, like others described in the literature (Dening & Berrios, 1989), clearly had psychiatric symptomatology presenting before the diagnosis of WD was made. The diagnosis of AN (American Psychiatric Association, 1987) was quite firmly estab- lished, with loss of 23% of body weight, and secondary amenorrhea. Although the pa- tient averred that she was too skinny upon admission, she resisted attempts at refeeding, claiming that she was allergic to all high calorie foods. When at her goal weight, she began to protest that she was too fat, and threatened to diet immediately after discharge.
Changes in eating behavior have been described in a number of organic brain dis- eases, and AN-like syndromes have been among the primary manifestations of several neurological illnesses, such as brain tumors of the hypothalamus or pineal gland (Weller & Weller, 1982; Heron & Johnston, 1976; White, Kelly, & Dorman, 1977; Dam- louji & Ferguson, 1987), and head injury (Morris & Hope, 1990). AN has also been as- sociated with other neuropsychiatric disorders such as Tourettes syndrome (Yayura- Tobias, 1979; Larocca, 1984), schizophrenia (Mohl & McMahon, 1980; Hsu, Meltzer, & Crisp, 1981), post-traumatic stress disorder (Damlouji & Ferguson, 1985), and mental retardation (Hurley & Sovner, 1979; Cottrell & Crisp, 1984). A possible common neu- roendocrine basis has also been suggested for AN and the Kleine-Levin syndrome (Young, 1975). Thus, our case agrees with the literature in that syndromic aspects of AN may appear when particular subcortical structures are either damaged or involved in disease processes. Indeed, copper accumulation in the CNS has been responsible for loss of taste (Henkin, Schecter, Friedewald, DeMets, & Ruff 1976) and smell (Henkin, 1981) function, and the toxic effects of neural accumulation of the metal might have been involved in the etiology of the psychiatric and neuropsychological changes ob- served in this patient.
The coincidence of WD and AN in the same patient does not necessarily imply a causative relationship. The prevalence of WD in females is approximately 0.03 cases per 1,000 (Medalia & Scheinberg, 1989), and that of AN is approximately 5 cases per 1,000 (Leichner & Gertler, 1988). The chances that the two illnesses might co-occur in the same female patient are approximately 0.15 per million, a rare but not insignificantly probability. Unfortunately, it is not possible to evaluate the effect of D-penicillamine therapy on the patients eating behavior, as this treatment was not followed for a long enough period.
The present report is the first suggestion that an AN-like syndrome may be an early manifestation of WD. In AN patients who have neuropsychological changes, or are poor treatment responders with relapsing or deteriorating clinical presentations, sim- ple screening for WD, such as serum copper and ceruloplasmin levels, could be per- formed.
The authors wish to gratefully acknowledge Priyanthie De Silva for her help in preparation of the manuscript; Dr. Marion Peters for her help in the pathological diagnosis of the patient; and the staff of 3-East of the National Institute of Health Clinical Center, for their expert care of the patient.
Cwirt5rndn. trager, and t Ienkin
American Psychiatric Association. (1Y87). Piatpiostic arid statistical rrruriunl of rritwtal d i s o r d m (3rd ed., revised). Washington, DC: American Psychiatric Press.
Casper, R. C., Kirschner, B. , Sandstead, 11. H,, Jacob, I