Anomalies of the Corpus Callosum: An MR Analysis of the Phenotypic Spectrum of Associated Malformations

Hetts, Steven W.; Sherr, Elliott H.; Chao, Stephanie; Gobuty, Sarah; Barkovich, A. James

doi:10.2214/ajr.05.0146

Cited by 173 publications

(157 citation statements)

References 21 publications

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“…This is difficult to explain with the malformations identified, as there are no anatomic structures in the affected region that could readily explain this clinical finding. White matter abnormalities, including reduced white matter volume and myelination delays, are reported to affect almost all cases (94%) of human patients with CCA 7. A possible explanation for the tremors is therefore that the affected animals had additional white matter abnormalities that we failed to detect.…”

Section: Discussionmentioning

confidence: 69%

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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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Section: Discussionmentioning

confidence: 69%

“…Although the canine cases reported here do not completely mirror the findings in septopreoptic HPE, a mild subtype of lobar HPE is suspected in these cases. Concurrent brain anomalies are commonly seen in humans with agenesis/hypogenesis of the CC or HPE 7. In these patients, a small diverticulum dorsal to the midbrain was found in 7 dogs.…”

Section: Discussionmentioning

confidence: 96%

Corpus Callosal Abnormalities in Dogs

Gonçalves

Volk

Smith

et al. 2014

Veterinary Internal Medicne

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“…Callosal anomalies may be associated with a variety of other brain malformations,with different manifestations [11] . In our patient, cerebellar signs and mental retardation were evident by dysathria, unstable gait and poor cognitive ability in class.…”

Section: Discussionmentioning

confidence: 99%

A case of Shapiro’s Syndrome in an African young man

Chacha

Omech

Siamisang

et al. 2015

CRIM

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Shapiro's syndrome is a rare congenital neurological disease characterized by episodes of excessive sweating and hypothermia, and by complete/partial agenesis of the corpus callosum. We report an 18 year-old male who was referred to Princess Marina Hopsital with a longstanding history of episodic shaking chills, excessive sweating, fatigue, and unsteady gait. During the episodes, he was bradycardic (pulse rate of less than 36 beats/minute), with blood pressure of less than 80/45 mmHg, and his axillary body temperatures were unrecordably low. Neurologic examination showed cerebellar signs. The MRI of the brain revealed agenesis of the corpus callosum with no other abnormalities. The patient responded to clonidine therapy. Shapiro's syndrome is an important consideration when evaluating a patient with episodic hyperhidrosis and hypothermia. The syndrome is rare worldwide and to the best of our knowledge, this report constitutes the first documentation of a case from Africa.

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“…Patients with JS may have epilepsy and detailed examination of these structures can give a clue for seizure etiology. In fact, co-occurrence of CC dysgenesis and hippocampal malformation, most probably due to timing of the insult, has been well described in the literature (10). Other than callosal dysgenesis, hippocampal malformations have been reported with various congenital malformations, including disorders of neuronal migration, non-callosal midline anomalies (including abnormal anterior or hippocampal commissures and interhemispheric cysts and lipomas), and abnormalities of the cerebellum or brainstem (11).…”

Section: Discussionmentioning

confidence: 99%

Structural abnormalities of the brain other than molar tooth sign in joubert syndrome related disorders

Senocak

Oğuz²,

Haliloğlu³

et al. 2009

Diagn Interv Radiol

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Joubert et al. first described in 1969 four siblings who had episodes of abnormal breathing and eye movements, ataxia, and mental retardation in association with vermian agenesis and meningoencephalocele in one sibling (1). The name Joubert syndrome (JS) was given several years later when an additional set of patients with similar findings was reported. The neuroradiological hallmark of JS is a complex midbrainhindbrain malformation that creates the molar tooth sign (MTS): (i) thinning of the isthmus with widened interpeduncular fossa; (ii) thickened superior cerebellar peduncles lying perpendicular to the dorsal pons; (iii) hypoplasia of the vermis with enlargement of the fourth ventricle and rostral shift of the fastigium; and (iv) sagittal vermian cleft due to incomplete fusion of the two halves of vermis (2). The absence of a normal vermis leads midline apposition of the cerebellar hemispheres and results in characteristic "batwing" appearance of the fourth ventricle on transverse imaging (3). There is a group of conditions, termed Joubert syndrome-related disorders (JSRDs) with clinical and radiological evidence of JS associated with additional findings and variable involvement of other organs and systems, mainly the eyes and kidneys.Although hindbrain malformation has been well described in the literature, there appears no detailed study concerning coexisting structural abnormalities in JS, to the best of our knowledge. In this retrospective study, we aimed to investigate the cranial malformations other than MTS in JS and their frequency. Materials and methodsCranial magnetic resonance imaging (MRI) of 20 patients (age range, 18 months-17 years; male/female, 13/7) diagnosed with JS by two experienced pediatric neurologists (GH, MT) were reviewed. Brain MRIs of the patients were performed on a 1.5-T system (Magnetom, Symphony, Siemens Medical Systems, Erlangen, Germany) between 2002 and 2008. All patients had at least the following MR sequences: axial and sagittal T1-weighted (W) spin echo (SE) (TR/TE, matrix, field of view,, axial and coronal T2W SE (TR/TE, 4000-5000/100 ms; matrix, 192-256; field of view, 230-230 mm), and axial fluid-attenuated inversion-recovery (FLAIR) (TR/TE/TI, 8500/98/2150 ms; matrix, 192-256; field of view, 230-230 mm). Two neuroradiologists (KKO, EUS) evaluated MR images in consensus. Following assessment of cerebellar vermis, cerebellar peduncles, and mesencephalon, special attention was paid to evaluation of supratentorial structures and cerebellum. Abnormalities other than MTS were noted.

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Anomalies of the Corpus Callosum: An MR Analysis of the Phenotypic Spectrum of Associated Malformations

Cited by 173 publications

References 21 publications

Corpus Callosal Abnormalities in Dogs

Corpus Callosal Abnormalities in Dogs

A case of Shapiro’s Syndrome in an African young man

Structural abnormalities of the brain other than molar tooth sign in joubert syndrome related disorders

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