Brainstem Abnormalities: Causes & Reasons

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Possible Causes for Brainstem Abnormalities

Leigh's Disease

It presents early in life with psychomotor regression, abnormal muscle tone, weakness, dystonia, brainstem and cerebellar dysfunction (ataxia), visual loss, missed milestones [ijri.org]

One or more of the following: characteristic feature on neuroimaging (b/l symmetrical hyperintense signal abnormality in brainstem and/or basal ganglia on T2). [annalsofian.org]

Pathological findings at neonatal period and epilepsy were described to be related to more frequent relapses as the age of onset, brainstem abnormalities in neuroimaging studies [ojrd.biomedcentral.com]

Complex Cortical Dysplasia with other Brain Malformations Type 7

The lateral ventricles are large and there is periventricular whie matter signal abnormality. The brainstem is small and the cerebellum is dysplastic. [neuropathology-web.org]

[…] vermian abnormalities. [link.springer.com]

Bilateral frontoparietal PMG is due to mutations of GPR56 and causes developmental delay, seizures, and cerebellar and brainstem dysfunction. [neuropathology-web.org]

Hereditary Hyperekplexia

RESULTS: Both FH/AH and SMS patients had abnormal propagation of brainstem reflexes into pericranial muscles. [ncbi.nlm.nih.gov]

Abnormal signaling in neurons in the brain and neurons that send signals to muscles throughout the body result in abnormal muscle movements, exaggerated startle reaction, [ghr.nlm.nih.gov]

Whether such neuronal dysfunction represents cortical dysfunction or an epiphenomenon of diencephalic or brainstem abnormalities is currently unknown. [pmj.bmj.com]

Bickerstaff Brainstem Encephalitis

A second MRI showed extension of the brainstem involvement without new lesions. A cervical spine MRI showed no abnormalities. [jamanetwork.com]

[…] on T2w FLAIR imaging that can be present in the supratentorial white matter, basal ganglia, brainstem, cerebellum, and spinal cord, with or without contrast enhancement. [de.slideshare.net]

[…] auditory evoked potentials (prolongation of wave I latency) suggested peripheral abnormalities. [ncbi.nlm.nih.gov]

Sudden Infant Death Syndrome

As the brainstem houses the regulatory centres for these functions, it is the most likely site to find abnormalities. [ncbi.nlm.nih.gov]

abnormalities that could have had a triggering role in causing the sudden death of these babies. [ncbi.nlm.nih.gov]

True to this hypothesis, data derived over the last 30 years shows that the brainstem of infants who died from SIDS exhibits abnormalities in a number of major neurotransmitter [ncbi.nlm.nih.gov]

Horizontal Gaze Palsy with Progressive Scoliosis

Brain MRI revealed similar brainstem abnormalities as detected in Patient 1. Evoked potentials were not performed. [journals.lww.com]

Brainstem developmental abnormalities were detected by MRI studies, featuring a partial midline split in the medulla oblongata and pons with posterior focus. [hippokratia.gr]

Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology. 2006 Aug 8;67(3):519-21. [ghr.nlm.nih.gov]

Auditory Neuropathy

All eight children demonstrated absent or marked abnormalities of brainstem auditory evoked potentials. [onlinelibrary.wiley.com]

Abnormal auditory brainstem responses showed prolonged inter-wave latencies reflecting conduction delays along the brainstem. [oxfordscholarship.com]

[…] auditory brainstem response. [4] Changing the polarity of the stimulus will result in an inversion of the cochlear microphonic. [en.wikipedia.org]

Absence of Septum Pellucidum

[…] foliation malformations of the brainstem Promoted articles (advertising) [radiopaedia.org]

[…] cytomegalovirus lissencephaly with RELN mutation lissencephaly with agenesis of corpus callosum and cerebellar dysplasia associated with diffuse cerebral polymicrogyria diffusely abnormal [radiopaedia.org]

Athabaskan Brainstem Dysgenesis Syndrome

[…] from abnormal brainstem function. [arizona.pure.elsevier.com]

Abthabascan brainstem dysgenesis syndrome is a rare disorder with diverse neurological problems that arises from abnormal brainstem functions. [novusbio.com]

Showing of 5 | 100% of people have these symptoms Abnormality of brainstem morphology Abnormal shape of brainstem 0002363 80%-99% of people have these symptoms Abnormality [rarediseases.info.nih.gov]

Hyperekplexia Type 4

Abnormal signaling in neurons in the brain and neurons that send signals to muscles throughout the body result in abnormal muscle movements, exaggerated startle reaction, [medlineplus.gov]

Whether such neuronal dysfunction represents cortical dysfunction or an epiphenomenon of diencephalic or brainstem abnormalities is currently unknown. [pmj.bmj.com]

An MRI and EEG seems rather reasonable, looking for structural brainstem causes, and brain disturbances with abnormal excitability (such as Jakob Creutzfeldt). [dizziness-and-balance.com]

Absent Auditory Canals

These previously undocumented auditory brainstem response abnormalities reflect abnormal neural transmission, which could cause peripheral and central auditory processing [pediatrics.aappublications.org]

Abnormal auditory brainstem response (ABR) and preserved otoacoustic emissions (OAEs) and/or cochlear microphonics (CM) were important features to differentiate it from common [tandfonline.com]

Narrowed internal auditory canals corresponded to poor speech discrimination, indicative of retrocochlear pathology and absent auditory brainstem response waves. [repository.up.ac.za]

Joubert Syndrome Type 16

abnormalities (deep interpeduncular fossa, and thick and elongated superior cerebellar peduncles) (Figure 2). [eyewiki.aao.org]

This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. [medlineplus.gov]

Thus the molar tooth sign on axial imaging through the brainstem isthmus can effectively distinguish between Joubert and Dandy-Walker syndromes [10]. [hindawi.com]

Autosomal Dominant Nonsyndromic Auditory Neuropathy

OMIM : 58 Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses [malacards.org]

Abstract Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. [ncbi.nlm.nih.gov]

Click-evoked auditory brainstem responses absent or severely abnormal. Cochlear microphonic present. [oae.it]

Joubert Syndrome Type 8

This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. [ghr.nlm.nih.gov]

The molar tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI. [ghr.nlm.nih.gov]

Muscular Dystrophy-Dystroglycanopathy Type A12

[…] of the nervous system Agyria Corpus callosum, agenesis of Global developmental delay Hydrocephalus Hypoplasia of the brainstem Lissencephaly Microcephaly Poor speech Progressive [ncbi.nlm.nih.gov]

[…] cysts, pontine hypoplasia and posterior concavity of the brainstem. [tellmegen.com]

[…] the part of the brain that connects to the spinal cord (the brainstem). [medlineplus.gov]

Arnold-Chiari Malformation Type 3

[…] occasionally have brainstem descent isolated myelomeningocele without posterior fossa abnormality [radiopaedia.org]

Numerous associated abnormalities are also frequently encountered. [radiopaedia.org]

The key features are discussed below, whereas the wide range of associated abnormalities (see above) are discussed separately. [radiopaedia.org]

Congenital Disorder of Glycosylation Type 2I

[…] system Neurogenic bladder Abnormality of the musculoskeletal system Microcephaly Abnormality of the nervous system Atrophy/Degeneration affecting the brainstem Cerebellar [ncbi.nlm.nih.gov]

[from SNOMEDCT_US] Show allHide all Abnormality of head or neck Microcephaly Abnormality of metabolism/homeostasis Type II transferrin isoform profile Abnormality of the genitourinary [ncbi.nlm.nih.gov]

[…] atrophy Cerebral atrophy Delayed speech and language development Intellectual disability Microcephaly Motor delay Truncal ataxia Ear malformation Hearing impairment Growth abnormality [ncbi.nlm.nih.gov]

Muscular Dystrophy-Dystroglycanopathy Type A7

[…] cysts, pontine hypoplasia and posterior concavity of the brainstem. [tellmegen.com]

(b) MRI brain T1 sagittal weighted images; (c and d) T2 axial sections showing the abnormal “Z” shaped and hypoplastic brainstem with kinking at the junction of midbrain and [neurologyindia.com]

An electromyography can show myopathic signs and the electroencephalogram is always abnormal. [tellmegen.com]

Developmental and Epileptic Encephalopathy Type 8

Abnormal signaling in neurons in the brain and neurons that send signals to muscles throughout the body result in abnormal muscle movements, exaggerated startle reaction, [medlineplus.gov]

Whether such neuronal dysfunction represents cortical dysfunction or an epiphenomenon of diencephalic or brainstem abnormalities is currently unknown. [pmj.bmj.com]

13-16 Experimental data suggest the importance of nucleus gigantocellularis in the pathogenesis of the abnormal startle response. 17 Subtle brainstem vascular anomaly, pontine [pmj.bmj.com]

Chromosome 6q11-q14 Deletion Syndrome

Phalangeal Hypoplasia, Mental Retardation, Agenesis of the Corpus Callosum, Brainstem Abnormalities and Ectopic Grey Matter: Unique Case or Newly Recognized Syndrome? [fhs.mcmaster.ca]

Hypoplasia of the brainstem Cephalocele Abnormal retinal morphology Occipital encephalocele Severe postnatal growth retardation Central apnea Repeated pneumothoraces Need [mendelian.co]

[…] facial shape Elbow flexion contracture Brainstem dysplasia Neonatal breathing dysregulation Respiratory insufficiency Long philtrum Cerebral atrophy Camptodactyly Abnormality [mendelian.co]

Joubert Syndrome Type 13

This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. [ghr.nlm.nih.gov]

The molar tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI. [ghr.nlm.nih.gov]

Lissencephaly due to TUBA1A Mutation

At the microscopical level, migration abnormalities are suggested by abnormal cortical and hippocampal lamination, and heterotopic neurons in the cortex, cerebellum and brainstem [eric.ed.gov]

Less constantly, abnormalities were also identified in basal ganglia, olfactory bulbs and germinal zones. [eric.ed.gov]

[…] with a neuropathological phenotypic spectrum which consistently encompasses five brain structures, including the neocortex, hippocampus, corpus callosum, cerebellum and brainstem [eric.ed.gov]

Alexander Disease

Radiologically, both can demonstrate white matter changes, signal abnormalities of basal ganglia or thalami, brainstem abnormalities and contrast enhancement of white matter [ncbi.nlm.nih.gov]

[…] of the basal ganglia and thalami, brainstem abnormalities, and contrast enhancement of particular gray and white matter structures) and are now highly reliable benchmarks [neurology.org]

Diagnostic methods MRI shows characteristic leukodystrophy with frontal, basal ganglia signal abnormality, brainstem signal abnormality and contrast enhancement. [orpha.net]

Dystonia with Cerebellar Atrophy (DYTCA)

Spastic paraplegia Urinary bladder sphincter dysfunction Pain Sporadic Abnormality of brainstem morphology Iris atrophy Mask-like facies Impotence Urinary urgency Bowel incontinence [mendelian.co]

Abnormality of the eye Abnormality of movement Arachnodactyly Poor speech Pachygyria Abnormality of vision Cerebral palsy Broad-based gait Toe walking Pes planus Cortical [mendelian.co]

Ptosis Constipation Hyperhidrosis Migraine Pallor Gliosis Small hand Parkinsonism Postural instability Epileptic encephalopathy Facial grimacing Vertigo Hypoplasia of the brainstem [mendelian.co]

Joubert Syndrome Type 20

[…] foliation malformations of the brainstem Promoted articles (advertising) [radiopaedia.org]

This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. [medlineplus.gov]

Early-Onset Cerebellar Ataxia

The severity of brainstem atrophy in 14 patients with and 12 patients without abnormal brainstem auditory evoked response did not differ significantly. [ncbi.nlm.nih.gov]

Four patients with PEOCA had SEP abnormalities similar to those seen in FA. [ncbi.nlm.nih.gov]

One or more modalities of evoked potentials were abnormal in 71.4%, that of brainstem auditory evoked response being most frequent (50%), followed by posterior tibial somatosensory [ncbi.nlm.nih.gov]

Joubert Syndrome Type 14

[…] foliation malformations of the brainstem Promoted articles (advertising) [radiopaedia.org]

This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. [medlineplus.gov]

Thus the molar tooth sign on axial imaging through the brainstem isthmus can effectively distinguish between Joubert and Dandy-Walker syndromes [10]. [hindawi.com]

Arnold-Chiari Malformation Type 2

[…] or brainstem abnormalities. [doi.org]

The term "Chiari malformation" encompasses a complex of abnormalities of the brainstem and cerebellum. Four types have been described. [kobiljak.msu.edu]

[…] occasionally have brainstem descent isolated myelomeningocele without posterior fossa abnormality [radiopaedia.org]

Cerebellotrigeminal Dermal Dysplasia

Showing of 49 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormality of brainstem morphology Abnormal shape of brainstem 0002363 [rarediseases.info.nih.gov]

[…] hair loss from scalp Scalp hair loss [ more ] 0002293 Ataxia 0001251 Brachycephaly Short and broad skull 0000248 Cerebellar vermis hypoplasia 0001320 Cognitive impairment Abnormality [rarediseases.info.nih.gov]

Joubert Syndrome Type 1

This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. [medlineplus.gov]

Thus the molar tooth sign on axial imaging through the brainstem isthmus can effectively distinguish between Joubert and Dandy-Walker syndromes [10]. [hindawi.com]

[…] eye and kidney, and related phenotypes are intellectual disability and ataxia Disease Ontology : 12 A ciliopathy that is characterized by congenital malformation of the brainstem [malacards.org]