Nondiabetic Ketoacidosis in a Patient With Spinal Muscular Atrophy Type II

Area of Science:

• Neurology
• Metabolic Disorders
• Genetics

Background:

• Spinal muscular atrophy (SMA) is a genetic disorder affecting motor neurons, leading to muscle atrophy.
• Patients with SMA often exhibit metabolic abnormalities, increasing susceptibility to conditions like ketoacidosis.
• This report focuses on a 51-year-old female with SMA type II presenting with non-diabetic ketoacidosis.

Observation:

• The patient presented with symptoms including diarrhea, reduced oral intake, nausea, and abdominal pain.
• Neurological examination revealed diffuse muscle atrophy and diminished reflexes.
• Laboratory results indicated severe metabolic acidosis with elevated beta-hydroxybutyrate levels, consistent with ketoacidosis.

Findings:

• The patient was diagnosed with non-diabetic ketoacidosis, a metabolic complication associated with SMA.
• Treatment with intravenous fluids, dextrose, and insulin led to the resolution of ketosis within two days.
• This case underscores the link between SMA and metabolic disturbances.

Implications:

• Endocrine abnormalities are significant in SMA patients and require clinical consideration.
• Recognizing these metabolic comorbidities is crucial for accurate diagnosis and effective management of individuals with SMA.
• This case emphasizes the need for a comprehensive approach to SMA care, addressing both neuromuscular and metabolic aspects.