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]
MRI MRI abnormalities are heterogeneous and differ depending on the underlying genetic abnormality 8 . Generally, the distribution tends to be symmetrical.[radiopaedia.org]
Most patients with SURF1 mutations affecting COX have MRI abnormalities involving brainstem and subthalamic nuclei. 34, 35 However, there are some exceptions. 36 The reasons[dovepress.com]
TUBB2B-Related Polymicrogyria
[…] of the internal capsule and corpus callosum, hypoplasia of the brainstem and corticospinal tracts), and migration or postmigration defects (abnormal cortex and hippocampal[symbiosisonlinepublishing.com]
The associated phenotypic spectrum encompasses a wide range of brain malformations, all reflecting axon guidance disturbances (abnormal fascicles and axon tracts, abnormalities[symbiosisonlinepublishing.com]
Gaucher Disease Type 3
These abnormalities could be due to a single lesion in the dorsomedial brainstem, or to multiple lesions, and further study is needed to clarify this issue.[ncbi.nlm.nih.gov]
We found a constellation of abnormalities including bilaterally raised acoustic reflexes, poor medial olivo-cochlear suppression, and very poor brainstem evoked potentials[ncbi.nlm.nih.gov]
ABR), acoustic reflexes and medial olivo-cochlear suppression by contralateral noise tests, that involve overlapping but not identical efferent and afferent pathways and brainstem[ncbi.nlm.nih.gov]
Sudden Infant Death Syndrome
abnormalities that could have had a triggering role in causing the sudden death of these babies.[ncbi.nlm.nih.gov]
Even though the pathogenesis remains unexplained, brainstem abnormalities of the neuronal network that mediates breathing and protective responses to asphyxia, particularly[ncbi.nlm.nih.gov]
[…] hemangioendothelioma (case 4) and mild pneumonia (case 5) alone might or might not have accounted for the sudden deaths, if it had not been for the location and/or concomitant presence of brainstem[ncbi.nlm.nih.gov]
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]
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]
Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology. 2006 Aug 8;67(3):519-21.[ghr.nlm.nih.gov]
Brainstem developmental abnormalities were detected by MRI studies, featuring a partial midline split in the medulla oblongata and pons with posterior focus.[hippokratia.gr]
Bickerstaff Brainstem Encephalitis
A second MRI showed extension of the brainstem involvement without new lesions. A cervical spine MRI showed no abnormalities.[jamanetwork.com]
[…] auditory evoked potentials (prolongation of wave I latency) suggested peripheral abnormalities.[ncbi.nlm.nih.gov]
[…] 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]
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]
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]
Athabaskan Brainstem Dysgenesis Syndrome
Abthabascan brainstem dysgenesis syndrome is a rare disorder with diverse neurological problems that arises from abnormal brainstem functions.[novusbio.com]
[…] from abnormal brainstem function.[arizona.pure.elsevier.com]
Abstract We report a new disorder with diverse neurological problems resulting from abnormal brainstem function.[ncbi.nlm.nih.gov]