Infantile sialic acid storage disorder
Overview
Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
Symptoms
The list of signs and symptoms mentioned in various sources for Infantile sialic acid storage disorder includes the 58 symptoms listed below: * Failure to thrive * Developmental delay * Reduced muscle tone * Ataxia * Seizures * Calcaneal calcifications * Osteopenia * Coarse facial features * Gum hypertrophy * Anteverted nose * Rib widening * Epicanthal folds * Drooping eyelids * Nystagmus * Clumsiness * Impaired growth * Exotrophia * Thick calvaria * Impaired motor development * Severe delay in mental development * Spasticity * Athetosis * Impaired speech * Delayed speech * Inability to walk * Coarse facial features * Failure to thrive * Anteverted nose * High arched palate * Enlarged gums * Heart failure * Enlarged heart * Slightly widened ribs * Abdominal ascites * Droopy eyelids * Nystagmus * Epicanthal folds * Clear cornea * Lack of color in fundus * Nephrotic syndrome * Enlarged spleen * Enlarged liver * Calcaneal calcifications * Metaphyseal irregularities * J-shaped sella * Osteopenia * Reduced skin pigmentation * Fair hair * Developmental delay * Seizures * Brain atrophy - cerebrum * Hydrocephalus * Reduced muscle tone * Premature birth * Hydrops fetalis * Increased free sialic acid in urine * Conjugated hyperbilirubinemia * Early death - usually during infancy or within a few years and usually due to respiratory infection
Diagnosis
Home medical testing related to Infantile sialic acid storage disorder: * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests
Treatment
* Womens Health Specialists: o Obstetrics & Gynecology o Reproductive Endocrinology & Infertility o Gynecological Oncology o Maternal & Fetal Medicine o Neonatal-Perinatal Medicine * Child Health Specialists (Pediatrics): o Pediatrics (Child Health Specialist) o Adolescent Medicine (Teen Health) o Pediatric / Adolescent Psychiatry o Pediatric Allergy and Immunology o Pediatric Cardiology o Pediatric Critical Care Medicine o Pediatric Dentistry o Pediatric Dermatology o Pediatric Developmental Behavioral Health o Pediatric Emergency Medicine o Pediatric Endocrinology o Pediatric Gastroenterology o Pediatric Hematology / Oncology