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pseudo-TORCH syndrome 1
ICD-10 Codes
Related ICD-10:
Description
Pseudo-TORCH syndrome 1 (PTORCH1) is an autosomal recessive neurologic disorder that resembles intrauterine TORCH infection without actual infection evidence [12]. It presents with characteristic clinical and neuroradiologic features, including early-onset seizures and severe microcephaly [14].
The condition has been registered in several families worldwide, with a total of eight reported cases so far [13]. Individuals affected by PTORCH1 show a range of symptoms, including:
- Early-onset seizures
- Severe microcephaly (small head size)
- Other congenital malformations
PTORCH1 is considered a rare and emerging entity in the medical community. Further research is needed to fully understand its causes, symptoms, and treatment options.
References: [12] Context result 12: Pseudo-TORCH syndrome 1 is an autosomal recessive neurologic disorder that resembles intrauterine TORCH infection without actual infection evidence. [13] Context result 13: by R Vivarelli · 2001 · Cited by 54 — A rare autosomal recessive infection-like condition named pseudo-TORCH syndrome. This emerging entity has been registered in eight families so far. [14] Context result 14: Pseudo-TORCH syndrome-1 (PTORCH1) is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic ...
Additional Characteristics
- Other congenital malformations
- Early-onset seizures
- Severe microcephaly (small head size)
Signs and Symptoms
Pseudo-TORCH Syndrome 1 Signs and Symptoms
Pseudo-TORCH syndrome 1, also known as Pseudo-TORCH 1 syndrome, is a rare autosomal recessive disorder that mimics the symptoms of
Additional Symptoms
- rare autosomal recessive disorder
- mimics the symptoms of TORCH syndrome
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for Pseudo-TORCH syndrome 1 are crucial in identifying this rare autosomal recessive neurologic disorder.
- Molecular Genetics Tests: Targeted variant analysis, sequence analysis of the entire coding region, and deletion/duplication analysis are some of the molecular genetics tests used to diagnose Pseudo-TORCH syndrome 1 [1].
- Genetic Testing: Whole exome sequencing has been used to reveal mutations in the OCLN gene consistent with Pseudo-TORCH syndrome-1 [8].
It's essential to note that these diagnostic tests are typically performed by specialized medical professionals and may require a comprehensive evaluation of the individual's clinical presentation, neuroradiologic features, and genetic makeup.
References: [1] Molecular Genetics Tests · Targeted variant analysis (1) · Sequence analysis of the entire coding region (3) · Deletion/duplication analysis (1) ... [8] by JR Alvi · 2021 · Cited by 3 — Serological testing for infectious agents was negative. His Whole exome sequencing revealed OCLN gene mutation consistent with Pseudo-TORCH syndrome-1.
Additional Diagnostic Tests
- Genetic Testing
- Molecular Genetics Tests
Treatment
Based on the provided context, it appears that there is limited information available on the specific drug treatment for pseudo-TORCH syndrome 1.
However, according to search result [5], integrated disease information for Pseudo-Torch Syndrome 1 does not provide any specific details on drug treatment.
Search result [3] mentions that a healthcare professional should be consulted for medical advice and treatment, but it does not specify the type of treatment or drugs used for pseudo-TORCH syndrome 1.
It's worth noting that pseudo-TORCH syndrome 1 is a rare genetic neurological disorder, and as such, there may be limited research or information available on its specific treatment.
Therefore, based on the provided context, it seems that there is no specific information available on drug treatment for pseudo-TORCH syndrome 1.
However, if you are looking for general information on treating neurological disorders, I can provide some general information. Neurological disorders often require a multidisciplinary approach to treatment, which may include medications, physical therapy, occupational therapy, and in some cases, surgery.
Some common classes of medications used to treat neurological disorders include:
- Anticonvulsants (e.g., phenytoin) for seizure control
- Muscle relaxants (e.g., baclofen) for spasticity management
- Cholinesterase inhibitors (e.g., donepezil) for cognitive enhancement
However, please note that these are general classes of medications and not specific to pseudo-TORCH syndrome 1. The best course of treatment would depend on the individual's specific condition, symptoms, and medical history.
If you have any further questions or would like more information, feel free to ask!
Recommended Medications
- No specific drug treatment available for pseudo-TORCH syndrome 1.
- General treatments for neurological disorders may include medications such as anticonvulsants, muscle relaxants, and cholinesterase inhibitors.
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Pseudo-TORCH Syndrome Differential Diagnosis
Pseudo-TORCH syndrome, a rare autosomal recessive disease, presents with symptoms such as intracranial calcification and microcephaly, leading to spasticity and seizures. When considering the differential diagnosis for pseudo-TORCH syndrome, several conditions should be taken into account.
- Congenital Infections: The TORCH group of infections, including toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, and syphilis, can cause similar symptoms in infants. However, these infections are typically associated with other systemic manifestations [1].
- Cockayne Syndrome: This rare genetic disorder is characterized by microcephaly, intracranial calcification, and developmental delay. While it shares some similarities with pseudo-TORCH syndrome, Cockayne syndrome has distinct features such as photosensitivity and progressive neurological deterioration [6].
- COFS (Conradi-Hünermann Syndrome): This rare genetic disorder is characterized by microcephaly, intracranial calcification, and developmental delay. Like pseudo-TORCH syndrome, COFS can present with seizures and spasticity, but it has distinct features such as cataracts and skin abnormalities [7].
- Intracranial Calcifications: Other conditions that can cause intracranial calcifications in infants include congenital infections (TORCH group), genetic disorders like Cockayne syndrome and COFS, and other rare syndromes. A thorough evaluation is necessary to determine the underlying cause of these symptoms [8].
It's essential to note that a comprehensive diagnostic workup, including imaging studies and genetic testing, is necessary to accurately diagnose pseudo-TORCH syndrome and rule out other potential causes.
References: [1] Misk RA (2022) - A pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures. [6] Watts P (2008) - The pseudo-TORCH syndrome is characterised by microcephaly, spasticity, seizures, developmental delay, and intracranial calcification and ... [7] Misk RA (2022) - Te differential diagnosis of in- tracranial calcifications in an infant includes intrauterine congenital infections (TORCH group), which have ... [8] Patnaik A (2017) - The differential diagnosis of intracranial calcification in an infant includes congenital infections like TORCH group, various genetic ...
Additional Differential Diagnoses
- Congenital Infections
- Intracranial Calcifications
- N syndrome
- Cockayne syndrome A
- Revesz syndrome
- TORCH syndrome
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050656
- oboInOwl#hasDbXref
- ORDO:1229
- oboInOwl#hasExactSynonym
- PTORCH1
- IAO_0000115
- A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- relatedICD
- http://example.org/icd10/H30.22
- core#notation
- DOID:0050656
- rdf-schema#label
- pseudo-TORCH syndrome 1
- rdf-schema#subClassOf
- t331988
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_693
- owl#annotatedSource
- t332546
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.