RESUMEN
BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive condition affecting lower motor neurons causing progressive muscle atrophy. Anorexia nervosa (AN) is a psychiatric disorder characterised by intense fear of weight gain, restriction of energy intake, and preoccupation with body weight and shape. Low weight, gastrointestinal dysmotility, and respiratory infections are common in SMA but may mask AN. No paediatric cases of AN in SMA have been reported to date. CASE PRESENTATION: A 14-year-old female with SMA2 presented with 12 months of declining body weight to a nadir of 24.8 kg (BMI 11). This was initially attributed to medical complications including pneumonia and gastroenteritis, and chronic gut dysmotility associated with SMA. Despite almost 2 years of dietetic input and nutritional supplementation due to the weight plateauing from age 11, no significant restoration or gain was achieved. The Eating Disorder Examination-Questionnaire (EDE-Q) indicated a possible eating disorder and psychiatric evaluation confirmed AN. Initial management prioritised close medical monitoring and outpatient weight restoration on an oral meal plan. Skin fold anthropometric measurement was conducted to determine a minimum healthy weight. Individual psychological therapy and family sessions were undertaken. The patient developed major depression and a brief relapse with weight loss to 28 kg. Since then, the patient has maintained a weight of around 35 kg with stable mood. CONCLUSIONS: Low body weight, feeding issues, gastrointestinal dysmotility, and respiratory infections are common in SMA and diagnostic overshadowing can lead to delayed recognition of anorexia nervosa. Change to growth trajectory and prolonged weight loss should prompt consideration of comorbid psychiatric issues. Screening measures such as the EDE-Q and DASS may be helpful in this population. Close liaison between the neurogenetics and psychiatry teams is helpful. Skin fold anthropometry can assist in identifying a minimum healthy weight range.