What is congenital intrauterine infection-like syndrome?
Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.
How common is congenital intrauterine infection-like syndrome?
Congenital intrauterine infection-like syndrome is extremely uncommon. Only more than 30 cases have been described in the literature so far. Please discuss with your doctor for further information.
What are the symptoms of congenital intrauterine infection-like syndrome?
Common symptoms of congenital intrauterine infection-like syndrome include:
- Cerebral calcification
- Abnormality of movement
- Cerebral cortical atrophy
- Opacification of the corneal stroma
- Renal insufficiency
Other symptoms include:
- Anteverted nares
- Autosomal recessive inheritance
- Cerebellar hypoplasia
- Decreased liver function
- Elevated hepatic transaminases
- Global developmental delay
- High palate
- Increased CSF protein
- Intellectual disability
- Long philtrum
- Low-set ears
- Muscular hypotonia of the trunk
- Phenotypic variability
- Sloping forehead
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes congenital intrauterine infection-like syndrome?
The cause of congenital intrauterine infection-like syndrome remains unknown.
What increases my risk for congenital intrauterine infection-like syndrome?
Please consult with your doctor for further information.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is congenital intrauterine infection-like syndrome diagnosed?
Diagnosis relies on the clinical picture and requires exclusion of intrauterine infections.
Congenital intrauterine infection-like syndrome shows considerable clinical overlap with Aicardi-Goutieres syndrome (AGS). The two syndromes were reported to differ by the presence of cerebrospinal fluid anomalies (CSF leucocytosis and elevated IFN-alpha levels) in AGS and hepatic dysfunction, congenital microcephaly and thrombocytopaenia in congenital intrauterine infection-like syndrome. However, as the clinical manifestations of both syndromes show significant variability, it has been suggested that AGS and congenital intrauterine infection-like syndrome represent different presentations of the same disease. The differential diagnosis should also include other syndromes characterised by microcephaly and intracranial calcification such as Cockayne syndrome, COFS syndrome (which is usely considered as the neonatal form of Cockayne syndrome) and Hoyeraal-Hreidarsson syndrome (the neonatal presentation of dyskeratosis congenita syndrome; see these terms), some cases of mitochondrial encephalomyopathy, and pseudohypoarathyroidism. Ancient cases may have been reported as “Fahr disease”, an outdated, causally heterogeneous clinical entity that encompasses several entities with intracranial calcifications.
How is congenital intrauterine infection-like syndrome treated?
Treatment is symptomatic only. The prognosis is variable but can be severe with several of the reported patients dying within the first year of life.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage congenital intrauterine infection-like syndrome?
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Congenital intrauterine infection-like syndrome https://rarediseases.info.nih.gov/diseases/12426/congenital-intrauterine-infection-like-syndrome Accessed January 24, 2018
Congenital intrauterine infection-like syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1229 Accessed January 24, 2018
Review Date: January 24, 2018 | Last Modified: January 25, 2018