Edit concept Question Editor Create issue ticket

Subcortical Band Heterotopia

Double Cortex Syndrome


Presentation

  • Clinical manifestations of seizures always started when ictal discharges were present in outer and heterotopic cortices.[ncbi.nlm.nih.gov]
  • Subcortical band heterotopia (SBH) is seen predominantly in females, resulting from mutations in the X-linked doublecortin (DCX) gene, and can present with mild mental retardation and epilepsy.[ncbi.nlm.nih.gov]
  • We present 3 female patients who were investigated at our center with video-scalp EEG monitoring, interictal single photon emission computed tomography (SPECT), functional magnetic resonance (MR) imaging (fMRI) and MR spectroscopy (MRS) besides routine[ncbi.nlm.nih.gov]
  • The present report demonstrates that whole-exome sequencing may be a useful tool for the identification of mutations in patients with lissencephaly and subcortical band heterotopias as well as malformations of cortical development.[ncbi.nlm.nih.gov]
  • A 10-year-old boy presented with a severe and diffuse mosaic skin hypopigmentation running (in narrow bands) along the lines of Blaschko associated with mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract,[ncbi.nlm.nih.gov]
Multiple Congenital Anomalies
  • Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.[ncbi.nlm.nih.gov]
  • This constellation of multiple congenital anomalies including skin hypopigmentation and eye, musculoskeletal, and nervous system abnormalities was sufficiently characterized to be regarded as a novel example of pigmentary mosaicism of the Ito type (i.e[ncbi.nlm.nih.gov]
Asymptomatic
  • Low level mosaicism could be a cause of inherited risk from asymptomatic parents for DCX related lissencephaly-subcortical band heterotopia spectrum.[ncbi.nlm.nih.gov]
Pulmonary Valve Stenosis
  • Additional features included epicanthal folds, hypertelorism, small nose with hypoplastic nares, bilateral syndactyly of the toes, pulmonary valve stenosis, atrial and ventricular septal defects.[ncbi.nlm.nih.gov]
Alopecia
  • A 10-year-old boy presented with a severe and diffuse mosaic skin hypopigmentation running (in narrow bands) along the lines of Blaschko associated with mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract,[ncbi.nlm.nih.gov]
Dyslexia
  • Abnormal development of the cerebral cortex in humans results in epilepsy, autism, intellectual disability, dyslexia, and other learning disorders, and perhaps some psychiatric conditions as well.[rarediseases.info.nih.gov]
Short Neck
  • neck, pectus excavatum, joint hypermobility, mild muscular hypotonia, generalized seizures, and mild mental retardation.[ncbi.nlm.nih.gov]
Seizure
  • Patients are reported to have several different types of seizures, which are usually drug resistant. Interictal EEG findings are known to correlate with the type of seizures, however less is known about the ictal EEG patterns.[ncbi.nlm.nih.gov]
  • At these times, both showed a 50% decrease in seizure frequency and an increase in seizure freedom. Both patients had a depressive syndrome after surgery that responded fully to anti-depressive medication in one patient and partly in the other.[ncbi.nlm.nih.gov]
  • Clinical manifestations of seizures always started when ictal discharges were present in outer and heterotopic cortices.[ncbi.nlm.nih.gov]
  • The SBH patients had mild to moderate developmental delays, drug-resistant generalized seizures, and diffuse thick SBH upon brain MRI. Sequence analysis of the DCX coding region in Patient 1 revealed a c.386 C T change in exon 3.[ncbi.nlm.nih.gov]
  • […] along the lines of Blaschko associated with mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract, microretrognathia, short neck, pectus excavatum, joint hypermobility, mild muscular hypotonia, generalized seizures[ncbi.nlm.nih.gov]
Generalized Seizure
  • The SBH patients had mild to moderate developmental delays, drug-resistant generalized seizures, and diffuse thick SBH upon brain MRI. Sequence analysis of the DCX coding region in Patient 1 revealed a c.386 C T change in exon 3.[ncbi.nlm.nih.gov]
  • seizures, and mild mental retardation.[ncbi.nlm.nih.gov]
  • The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side[ghr.nlm.nih.gov]
Dysarthria
  • Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. 0001522 Dysarthria Difficulty articulating speech 0001260 Heterotopia 0002282 Incomplete penetrance[rarediseases.info.nih.gov]
Nystagmus
  • […] disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Micropenis Short penis Small penis [ more ] 0000054 Motor delay 0001270 Muscular hypotonia of the trunk Low muscle tone in trunk 0008936 Nystagmus[rarediseases.info.nih.gov]

Treatment

  • Deep brain stimulation of the anterior nuclei of the thalamus has been used for the treatment of refractory epilepsy with good results.[ncbi.nlm.nih.gov]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Treatment and prognosis Treatment is symptomatic and usually targeted at controlling epilepsy. Related Radiopaedia articles Promoted articles (advertising)[radiopaedia.org]

Prognosis

  • Treatment and prognosis Treatment is symptomatic and usually targeted at controlling epilepsy. Related Radiopaedia articles Promoted articles (advertising)[radiopaedia.org]

Etiology

  • Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.[ncbi.nlm.nih.gov]

Epidemiology

  • Epidemiology of lissencephaly type 1. Neuroepidemiology 1991.10: 200-4. Guerrini R and Filippi T. Neuronal migration disorders, genetics and epileptogenesis. J Child neurol. 2005;20. 287-299. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH.[malattierare.toscana.it]
Sex distribution
Age distribution

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!