Presentation
Entire Body System
- Collapse
At the age of 16 weeks she collapsed with profound hypoglycaemia. Fasting also provoked hypoglycaemia with lactic acidaemia. [link.springer.com]
- Sudden Infant Death Syndrome
Her brother died at the age of 4 weeks of sudden infant death syndrome. [link.springer.com]
- Multiple Organ Dysfunction Syndrome
organ dysfunction syndrome, and much more. [books.google.de]
Gastrointestinal
- Failure to Thrive
Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. [uniprot.org]
Original Investigations 95 Downloads 23 Citations Abstract A 3-month-old girl presented with anorexia, failure to thrive and drowsiness. She was mildly icteric with hepatomegaly and peripheral oedema. [link.springer.com]
In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia ), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading [rarediseases.info.nih.gov]
Failure to thrive. Metabolic acidosis from accumulation of lactic acid. Mild icterus with hepatomegaly. Generalised muscle weakness. [patient.info]
[…] to thrive); and an abnormally low blood sugar (glucose) level (hypoglycemia). [rarediseases.org]
Cardiovascular
- Cyanosis
PE Mild cyanosis; shallow respirations; increase in size of tongue (MICROGLOSSIA); moderate hepatomegaly; significant generalized muscular flaccidity. Labs CBC: normal. Lytes: normal. Glucose, BUN, creatinine normal. [kelmacmedical.us]
Skin
- Photosensitivity
PE Skin erythema with vesicles and bullae on sun-exposed areas; skin at these sites is friable and shows presence of whitish plaques ("milia") (due to photosensitizing effect of uroporphyrin); skin of face also shows hypertrichosis and hyperpig-mentation [kelmacmedical.us]
Workup
Axis
- Left Axis Deviation
ECG: short P-R; wide QRS; left-axis deviation. Imaging CXR: extreme cardiomegaly and congestive heart failure. Gross Pathology Significant increase in size and weight of heart (up to five times normal); to lesser extent, hepatomegaly. [kelmacmedical.us]