Pseudo-TORCH syndrome or Baraitser–Reardon syndrome: diagnostic criteria

  title={Pseudo-TORCH syndrome or Baraitser–Reardon syndrome: diagnostic criteria},
  author={Rossella Vivarelli and Salvatore Grosso and Maddalena Cioni and P. Galluzzi and Lucia Monti and Guido Morgese and Paolo Balestri},
  journal={Brain and Development},
[Aicardi-Goutières syndrome: report of two new cases].
Aicardi-Goutières syndrome should be kept in mind when investigating microcephalic and retarded patients with cerebral calcifications initially suggestive of TORCH infection.
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.
Leukoencephalopathy, cerebral calcifications and cysts: a family study
We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by epilepsy, cerebral calcifications and
Congenital Dysplastic Microcephaly and Hypoplasia of the Brainstem and Cerebellum With Diffuse Intracranial Calcification
This study describes the most severe form of pseudo–toxoplasmosis, rubella, cytomegalovirus, and herpes simplex syndrome reported to date, with the patient showing microcephaly and calcification or band-like intracranial calcification with simplified gyration and polymirogyria.
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.
Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status.
A 19-year-old patient with an atypical clinical course is reported on, characterized by a relatively benign presentation at onset, with severe, generalized, myoclonic attacks lasting hours.
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.
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.
Human pathogenic arenaviruses
Further studies are still needed to assess specific manifestations of congenital LCMV, its relation to brain defects, and differential diagnoses including genetic conditions, including Aicardi–Goutières syndrome.


The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family.
We describe a Bedouin family with the rare autosomal recessive infection-like syndrome of microcephaly, intracranial calcification and CNS disease that has so far been documented in only eight
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.
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.
A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection
Two children, the products of a consanguineous union, who died in infancy had severe microcephaly intracranial calcification, lissencephaly and polymicrogyria.
Two siblings with microcephaly associated with calcification of cerebral white matter
The cases of two male siblings with microcephaly with calcification of cerebral white matter seem to be a previously undescribed genetic disease.
Microcephaly and intracranial calcification in two brothers
Sibs are reported with severe congenital microcephaly, spasticity, and seizures. Both had extensive intracranial calcification.