Two brothers with findings resembling congenital intrauterine infection‐like syndrome (pseudo‐TORCH syndrome)

  title={Two brothers with findings resembling congenital intrauterine infection‐like syndrome (pseudo‐TORCH syndrome)},
  author={Hans Knoblauch and Cornelia Tennstedt and Wolfgang Brueck and Hannes Hammer and Tom Vulliamy and Inderjeet S. Dokal and R{\"u}diger Lehmann and Folker A Hanefeld and Sigrid Tinschert},
  journal={American Journal of Medical Genetics Part A},
Clinical, pathological, and X‐ray findings of two brothers with features resembling congenital intrauterine infection‐like syndrome are presented. Extensive screening for intrauterine infection was performed. Nevertheless all confirmatory tests were normal. Both brothers showed extensive intra‐ and extra‐cranial calcifications, thrombocytopenia, a septum pellucidum cyst, one‐sided paresis of the diaphragm, and metaphyseal changes on X‐ray scans resembling intrauterine infection. Within the… 

Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo‐TORCH or a new syndrome

It is proposed that the distinct pattern in these sibs constitutes genetic disorder of microcephaly, developmental brain malformation and intracranial calcification of likely autosomal recessive inheritance.

Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy–Walker malformation

A case of infant showing clinical features suggestive of congenital CMV infection with negative serology and radiological imaging suggestive of DWM with extensive intracranial calcification is reported.

Recurrent Pseudo-TORCH Appearances of the Brain Presenting as “Dandy-Walker” Malformation

These two male siblings are the 1st cases that show pseudo-TORCH syndrome with distinctive intracranial calcification presenting as DWM, and the relevance of the multidisciplinary teamwork involved in the diagnosis of these complex cases is confirmed.

Fetal intracranial calcification: Pseudo‐TORCH phenotype and discussion of related phenotypes

A patient with antenatally detected extensive ICC is reported on, in whom postnatal imaging revealed a distinctive band‐like ICC with abnormal gyral pattern and a negative serology for TORCH infections, which expands the phenotypic spectrum of this recently described heterogenous condition.

A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2

The present case highlights the significance of carrier screening, prenatal diagnosis, and genetic counseling in couples with bad obstetric history for the detection of rare genetic disorders with poor prognosis.

Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome?

Two unrelated female infants with visually inattentive behaviour, hydranencephaly, and intracranial calcification are reported that may represent a new syndrome or the more severe end of the spectrum of the pseudo-TORCH syndrome.

Aicardi-Goutières syndrome with emphasis on sonographic features in infancy

Early cranial US is able to visualize the whole spectrum of cerebral anomalies in AGS: calcifying microangiopathy, white matter disease and unusual subependymal cysts.

Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes

A full consideration of the radiological and clinical features is necessary before concluding that congenital infection is the cause of ICC, and a systematic approach to the identification and description of radiological findings allows a diagnosis to be made in many cases.



A Syndrome of Progressive Pancytopenia with Microcephaly, Cerebellar Hypoplasia and Growth Failure

The condition of three patients with similar clinical and laboratory findings should be considered as a separate syndrome of congenital pancytopenia, distinguished from other congenital myeloid dysplasias by the extramedullary findings.

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.

Patients with a condition of microcephaly, intracranial calcification, and a clinical course resembling congenital TORCH infection are presented and the value of disturbed liver function and thrombocytopenia as aids to diagnosis is emphasised.

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

It is demonstrated that HH is a severe variant of X‐linked dyskeratosis congenita, and boys with unexplained AA or immunodeficiency should be tested for mutations in DKC1 even though they may lack diagnostic features of DC.

A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?

A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs is presented, and the recurrence of the disease in sibships suggests autosomal recessive inheritance.

Aicardi‐Goutières syndrome: An update and results of interferon‐α studies

An autosomal recessive inheritance for Aicardi‐Goutières syndrome is supported, and the high level of interferon‐α is not explained but may play a role in the pathogenesis of the disorder.

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

The data suggest the existence of locus heterogeneity in Aicardi-Goutières syndrome and highlight potential difficulties in the differentiation of this condition from pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome.

A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

Eight infants developed a progressive disorder of the central nervous system with bilateral spasticity and dystonia, acquired microcephaly, and a rapid course toward profound deterioration and death, although some features, especially the pleocytosis, may erroneously suggest an inflammatory condition.

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

A multigenerational family with dominantly inherited IBGC is identified and, in 24 members of this family, a whole-genome scan is performed using polymorphic microsatellite markers to identify the first chromosomal locus for this disorder (IBGC1).

A case of Høyeraal-Hreidarsson syndrome: delayed myelination and hypoplasia of corpus callosum are other important signs.

It is suggested that immunological abnormalities of both T and B cells are one of the important signs of HHS and delayed myelination of cerebral white matter and hypoplastic corpus callosum should be added to the list of important signs.

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

The gene responsible for dyskeratosis congenita is mapped in a large pedigree with autosomal dominant inheritance and affected members of this family have an 821-base-pair deletion on chromosome 3q that removes the 3′ 74 bases of hTR.