Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Hanna, Ramy M; Marsh, Sarah Arnaud; Swistun, D.; Al‐Gazali, Lihadh; Zaki, Maha S.; Abdel-Salam, Ghada M.H.; Al-Tawari, Asma A.; Bastaki, Lailá; Kayserili, Hülya; Rajab, Anna; Boglárka, B.; Dietrich, Ralf; Dobyns, William B.; Truwit, Charles L.; Sattar, Shifteh; Chuang, Nathaniel A.; Sherr, Elliott H.; Gleeson, Joseph G.

doi:10.1212/wnl.0b013e318208f492

Cited by 50 publications

(46 citation statements)

References 22 publications

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“…In this sense, our observations support the view that ACC does not appear to be the cause of SS [5], as persons with isolated ACC may have no symptoms [11]. On the other hand, clinical phenotypes are commonly similar in siblings of a given family, but a greater heterogeneity exists for MRI corpus callosum findings [11]. Noteworthy, SS is a rare presentation of ACC but surgical division of the corpus callosum has not resulted in episodic hyperhidrosis and hypothermia [2].…”

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confidence: 85%

“…Interestingly, recurrent hypothermia has been reported in patients with normal corpus callosum [10]. In this sense, our observations support the view that ACC does not appear to be the cause of SS [5], as persons with isolated ACC may have no symptoms [11]. On the other hand, clinical phenotypes are commonly similar in siblings of a given family, but a greater heterogeneity exists for MRI corpus callosum findings [11].…”

Section: Dear Sirsupporting

confidence: 83%

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Recurrent hypothermia with hyperhidrosis in two siblings: familial Shapiro syndrome variant

et al. 2011

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A 21-year-old woman was referred for recurrent (up to 2 times per month) episodes of generalized hyperhidrosis and hypothermia with a core temperature fluctuating between 32 and 35°C, lasting from 2-3 h. During these attacks, the woman sweated profusely and felt faint; her skin was pale and cool and sinus bradycardia (\50 bpm) was observed. At admission, blood chemistry and cell count were unremarkable. Ictal EEGs, ECG Holter, and echocardiography were unremarkable. Brain MRI revealed the total absence of the corpus callosum (Fig. 1b). The patient had normal mental status and did not display facial dysmorphisms. No neurologic or physical abnormalities were noted. Endocrine evaluation of hypothalamic-pituitary axis, thyroid, adrenals, and gonads was unremarkable. Electroencephalograms and lack of response to anticonvulsants (levetiracetam 1,000 mg twice/day) excluded the epileptic origin of the attacks.Her 11-year-old brother suffered from episodes of hypothermia associated with pallor and profuse sweating, lasting for approximately 1 h from the age of 9 years. His axillary body temperature during the episodes was 34.5°C. These episodes recurred up to ten times per month; they occurred randomly and showed a spontaneous recovery. Possible triggering factors were not recognized by parents. On admission, the boy complained of abdominal pain and he was confused and lethargic. Clinical examination during the attack revealed hypothermia with rectal temperatures as low as 31°C.No neurologic or physical abnormalities, including facial dysmorphisms, were noted. Blood chemistry and cell count were unremarkable. Morning cortisol, prolactin, growth hormone, LH, and FSH were also normal. EEG and brain MRI were normal (Fig.

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Section: Dear Sirsupporting

confidence: 85%

Section: Dear Sirsupporting

confidence: 83%

Recurrent hypothermia with hyperhidrosis in two siblings: familial Shapiro syndrome variant

et al. 2011

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“…Classically, CCA in humans are divided into partial (hypogenesis) or complete agenesis 1. The first type is more common and the most frequently seen anomalies tend to affect the caudal portion of the CC 1, 6. Recently, a more detailed classification system has been proposed6 dividing CCA into hypoplasia (in which all the major anatomic components are present but are reduced in size), hypoplasia with dysplasia (small CC with distorted overall shape), and agenesis (absence of CC).…”

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confidence: 99%

Corpus Callosal Abnormalities in Dogs

Gonçalves

Volk

Smith

et al. 2014

Veterinary Internal Medicne

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BackgroundCorpus callosal abnormalities (CCA) in dogs have been only sporadically reported and are poorly characterized.Hypothesis/ObjectivesTo describe the clinical presentation and magnetic resonance imaging (MRI) characteristics of dogs with CCA.AnimalsFifteen client‐owned dogs.MethodsRetrospective study. Records of the contributing institutions were reviewed to identify dogs diagnosed with malformations affecting the corpus callosum (CC); cases in which the CCA was thought to be secondary were excluded.ResultsThe most represented breeds were Staffordshire Bull Terriers (5/15) and Miniature Schnauzers (3/15; n = 3, 20%) and the mean age at time of presentation of 19 months (range 3–81 months). The clinical signs most commonly reported were adipsia/hypodipsia with associated hypernatremia (12/15), tremors (6/15), and seizures (6/15). Review of the MR images revealed that 10 dogs had absence of the rostral CC and hypoplasia of the caudal portion, 4 dogs had a diffusely hypoplastic and dysplastic CC, and 1 dog had a diffusely hypoplastic CC. In 14 cases, there was abnormal cortical development with fusion of the ventral frontal lobes and part of the diencephalon, indicating lobar holoprosencephaly.Conclusions and Clinical ImportancePrevious literature has mainly associated CCA with adipsia and only 12 of 15 dogs in the current series demonstrated this abnormality. There are different degrees of the malformation but in 10 dogs the rostral portion of the CC is most severely affected. Fourteen dogs have simultaneous fusion of the midline structures rostral to the CC; this region has several structures involved in thirst regulation and might explain this derangement.

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“…Most hereditary spastic parapareses with thin CC also exhibited an anatomic predilection in the anterior part of the CC truncus, which might be associated with fiber trajectory of the anterior portion of the CC containing projections of the prefrontal and premotor cortex [23]. However, our patients displayed hypoplasia and agenesis of the CC that was partially an underdeveloped CC in the posterior region showing an apple core CC or anterior remnant CC [24]. Therefore, the hypoplasia and agenesis of the CC cannot simply be explained by secondary neurodegeneration resulting from the centripetal extension of the distal axonopathy affecting the spinal cord long tracts.…”

Section: Discussionmentioning

confidence: 61%

Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

et al. 2018

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Background: Adult adrenomyeloneuropathy (AMN) is caused by mutations in the ABCD1 gene. Some pure AMN patients develop cerebral demyelination late in life. However, hypoplasia and agenesis of the corpus callosum (CC) has never been reported in AMN patients. Objective: To describe a new clinical variant of AMN that is possibly caused by a novel ABCD1 gene mutation. Methods: A total of 10 members in an X-linked inherited family were examined. The age at onset, progression of disability, and clinical manifestations were collected. Blood tests of the index case were conducted in an academic hospital. Cerebral and spinal MRI was performed in 4 affected members using a Siemens 3.0-T or Hitachi 1.0-T MR scanner. Whole-exome sequencing was conducted in the index case, which was subsequently validated by Sanger sequencing in the family. Results: The patients displayed typical degenerative spastic paraparesis and peripheral sensorimotor neuropathy with some intrafamilial variations. In addition to neurological deficits, all male patients displayed alopecia since adolescence. Furthermore, an increase in plasma long-chain fatty acids was observed. Based on these presentations, adult AMN was diagnosed for the patients. Intriguingly, cerebral MRI showed multiple types of hypoplasia and agenesis of the CC including anterior remnant CC agenesis, truncated corpus and splenium, anterior remnant CC agenesis along with thin corpus and splenium. Whole-exome sequencing revealed a nonsense mutation (c.231G>A) which results in a truncated protein product (p.W77X) that might be nonfunctional. No other mutations associated with alopecia or hypoplasia and agenesis of the CC were identified in the exome-sequencing database. Conclusion: In addition to the typical symptoms such as spastic myelopathy, cognitive impairment, mixed neuropathy, and alopecia, AMN patients can also display hypoplasia and agenesis of the CC, which was not described in the other AMN patients reported before.

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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Abstract: The data suggest that complete agenesis may be a common end-phenotype, and implicate multiple overlapping pathways in the etiology of CCA.

Cited by 50 publications

References 22 publications

Recurrent hypothermia with hyperhidrosis in two siblings: familial Shapiro syndrome variant

Recurrent hypothermia with hyperhidrosis in two siblings: familial Shapiro syndrome variant

Corpus Callosal Abnormalities in Dogs

Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

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