NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1229 Definition 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. Epidemiology More than 30 cases have been described in the literature so far. Clinical description The clinical presentation of the reported cases is rather heterogeneous with variable manifestations including intrauterine growth retardation, hepatosplenomegaly , hyperbilirubinaemia, cerebellar hypoplasia or atrophy, and congenital cataract . Affected individuals with associated thrombocytopaenia have also been reported but it has been suggested that these patients may have a distinct subtype. Etiology The cause remains unknown. Diagnostic methods Diagnosis relies on the clinical picture and requires exclusion of intrauterine infections. Differential diagnosis Congenital intrauterine infection-like syndrome shows considerable clinical overlap with Aicardi-Goutieres syndrome (AGS, see this term). 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 Ancient cases may have been reported as ``Fahr disease'', an outdated, causally heterogeneous clinical entity that encompasses several entities with intracranial calcifications. Genetic counseling Several familial cases, compatible with an autosomal recessive pattern of inheritance, have been described. Management and treatment Treatment is symptomatic only. Prognosis The prognosis is variable but can be severe with several of the reported patients dying within the first year of life. Visit the Orphanet disease page for more resources.
MalaCards based summary :
Congenital Intrauterine Infection-Like Syndrome, also known as
pseudo-torch syndrome, is related to
dyskeratosis congenita, x-linked and
hoyeraal hreidarsson syndrome, and has symptoms including
muscle spasticity An important gene associated with Congenital Intrauterine Infection-Like Syndrome is
DKC1 (Dyskerin Pseudouridine Synthase 1). Affiliated tissues include
testes and
brain, and related phenotypes are
microcephaly and
spasticity
