Table 2 Clinical signs that should raise suspicion of Sanfilippo syndrome when present alone or in combination [9, 12, 27]
From: Sanfilippo syndrome: consensus guidelines for clinical care
Type of clinical sign | Manifestation |
|---|---|
Neurological | |
Cognitive | Speech delay Non-specific developmental delay Intellectual disability with progressive loss of cognitive and daily living skills |
Behavioral | Aggressive and/or destructive behavior Hyperactivity Hyperorality Obstinacy or temper tantrums Lack of fear (of danger) Disobedience/unresponsiveness to discipline Attention deficit hyperactivity disorder Motor restlessness Sensitivity to touch or temperature changes Autistic behaviors Sleep disturbance |
Motor | Motor delays Gait disorders Spasticity |
Other | Seizures |
Somatic | |
Craniofacial and physical appearance | Coarse facial features Coarse and thick hair Hirsutism Thickened skin Frontal bossing Macrocephaly |
Abdominal/gastrointestinal | Colic-like episodes Diarrhea or chronic loose stools Constipation Gastrointestinal discomfort Umbilical or inguinal hernia Hepatosplenomegaly |
Ear, nose, and throat | Hearing loss Recurrent otitis Requiring more than one set of ear grommets for persistent middle ear effusion or infection Chronic nasal congestion Need for earlier than usual adenotonsillectomy |
Eyes | Retinitis pigmentosa |
Heart | Arrhythmia Cardiomyopathy Valvular heart disease |
Musculoskeletal | In-toeing Toe-walking Joint stiffness Osteonecrosis of the femoral head Scoliosis |
Respiratory | Persistent tachypnea in the neonate Pneumonia Sleep apnea |