Biography
Biography: Ma Carmela A Sampelo
Abstract
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a rare lysosomal storage disorder caused by a deficiency in one of the four enzymes involved in the catabolism of glycosaminoglycan heparan sulfate. The primary characteristic of MPS III is the degeneration of the central nervous system, manifested as mental retardation and hyperactivity, typically commencing during childhood. The incidence varies worldwide but estimated range is one is to nine in 1,000,000 people. In relation to this, there has not been any documented case of Sanfilippo syndrome at Ospital ng Makati. A 15-year-old female was diagnosed with Sanfilippo syndrome since 2006 at Philippine General Hospital. Patient was noted to have developmental delay at two years of age. Mother claimed that patient started to walk at two years of age. Initial neurodevelopmental consult was done at Ospital ng Makati and diagnosed with global developmental delay. At five years of age, noted inattention at school and coarse hair and gradual hirsutism observed primarily on the face, trunk and extremities with difficulty flexing upper and lower extremities. Patient was referred to PGH for further work up and management. Karyotyping revealed Sanfillipo syndrome. Pertinent physical examination included coarse facial hair, thick eyebrows, flat nasal bridge, thick lips, widespread teeth, high arched palate with limitation of elbow flexion, forearm anomalies. Patient was referred at rehabilitation medicine for speech therapy, psychomotor evaluation and ENT service for hearing evaluation. Patient underwent tracheostomy due to persistent stridor secondary to subglottic stenosis. On the interim, nutritional buildup was continued through progression of high caloric feeding via nasogastric tube. Family of the patient had regular check-up in pulmonology, neurology, gastroenterology and ENT service.