Phenotypes for disease #00001 (ALXDRD (Alexander Disease), OMIM:203450)

41 entries on 1 page. Showing entries 1 - 41.
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AscendingPhenotype ID     
Phenotype details     
Inheritance     
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Individual ID     
0000000001 type II AxD with ataxia as the first symptom - XY Liu 00006173
0000000002 Type II Alexander disease with atypical phenotypes - XY Liu 00006174
0000000003 late-onset Alexander disease presenting with area postrema-like syndrome - XY Liu 00006175
0000000004 Clinical characteristics were typical and involved progressive bulbar and gait disturbance, followed by pyramidal and cerebellar impairment, dysautonomia, and cognitive decline. - XY Liu 00006176
0000000005 The neurological deterioration was mild and appeared relatively late for infantile onset. - XY Liu 00000049
0000000006 Asymptomatic hereditary - XY Liu 00006138
0000000007 Adult Alexander's disease without leukoencephalopathy - XY Liu 00000070
0000000008 presented at the age of 5 months with refractory epilepsy and hypotonia - XY Liu 00000005
0000000009 He was clinically characterized due to the presence of psychomotor retardation, megalencephaly, spasticity, and recurrent seizures including infantile spasms which is a remarkable presentation. - XY Liu 00006143
0000000010 We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age. At 6 months of age, bulbar paralysis appeared. - XY Liu 00006144
0000000011 Alexander disease with occipital predominance - XY Liu 00000026
0000000012 This case presented with progressive dysarthria, dysphagia and spastic gait on the right side. Brain and spinal cord MRI showed marked atrophy of the medulla oblongata and spinal cord. Abnormal high signal intensities in the ventral medulla oblongata were detected bilaterally. - XY Liu 00000065
0000000013 Adult-onset Alexander disease with progressive ataxia and palatal tremor - XY Liu 00000029
0000000014 Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour - XY Liu 00000006
0000000015 The case was characterized by early (late infantile) onset, the absence of megacephaly but with extensive internal hydrocephaly, despite a patent aqueduct. - XY Liu 00000008
0000000016 Tumor-like enlargement of the optic chiasm in an infant with Alexander disease - XY Liu 00006146
0000000017 Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes - XY Liu 00000038
0000000018 adult-onset Alexander disease presenting with spastic ataxia - XY Liu 00000046
0000000019 We report the case of a 6-year-old male who was referred to a tertiary oncology center with a focal brainstem lesion which was presumed to be neoplastic. Due to the symmetric nature of the lesion on magnetic resonance imaging, the evaluation was expanded to investigate other possible causes and eventual diagnosis of Alexander's disease (AD) was made. - XY Liu 00000028
0000000020 Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement - XY Liu 00000025
0000000021 extreme white matter loss of cerebrum through cerebellum, severe atrophy of basal ganglia, cerebellum, brain stem, and cervical spinal cord - XY Liu 00000079
0000000022 She showed psychomotor regression and a history of seizures, in addition to pendular nystagmus, dysarthria, spastic gait, and bladder dysfunction. Brain magnetic resonance imaging (MRI) showed atrophy of the medulla oblongata and mild cervical cord atrophy, deep white matter abnormalities, periventricular rim, and signal changes of the medulla oblongata and dentate hilum. - XY Liu 00000080
0000000023 Episodic vomiting appeared at age nine, causing anorexia and insufficient growth. Brain MRI at age 11 showed a small nodular lesion with contrast enhancement in the left dorsal portion of the cervicomedullary junction. Her episodic vomiting improved spontaneously at age 13, and she became neurologically asymptomatic. The enhancement of the lesion disappeared simultaneously, although the plaque remained. Longitudinal MRI observations, however, revealed insidiously progressive cervicomedullary atrophy without a signal change. - XY Liu 00000081
0000000024 presented with severe vocal cord paralysis during sleep - XY Liu 00000082
0000000025 Alexander disease with mild dorsal brainstem atrophy and infantile spasms - XY Liu 00000084
0000000026 unusual bilateral basal ganglia involvement - XY Liu 00000085
0000000027 a combination of neurological symptoms and signs (developmental regression, failure to thrive, episodic deterioration, abnormal eye movements, pyramidal and cerebellar signs), urinary excretion of 3-methyl-glutaconic acid and imaging findings (extensive white matter changes and cerebellar atrophy) with a normal head circumference - XY Liu 00000090
0000000028 Type II (adult onset) Alexander disease - XY Liu 00004760
0000000029 At the age of 4 years, the child developed epilepsia partialis continua, consisting of unabating motor seizures involving the unilateral perioral muscles. - XY Liu 00004761
0000000030 type II (late-onset) Alexander disease - XY Liu 00004766
0000000031 presenting with paroxysmal numbness of the limbs at the onset age of 28-year-old, progressing gradually to spastic paraparesis at age 30. One year later, she had ataxia, bulbar paralysis, bowel and bladder urgency. Her mother had a similar neurological symptoms and died within 2 years after onset (at the age of 47), and her maternal aunt also had similar but mild symptoms at the onset age of 54-year-old. Her brain magnetic resonance imaging (MRI) showed abnormal signals in periventricular white matter with severe atrophy in the medulla oblongata and thoracic spinal cord, and mild atrophy in cervical spinal cord, which is unusual in the adult form of AxD. - XY Liu 00004767
0000000032 a 21-month-old boy presenting with flaccid paraparesis and areflexia. Cognitive, visual as well as fine motor skills and muscular strength of the upper extremities were appropriate for age. Weight and height as well as head circumference were within normal range. Clinical or electroencephalographic signs of seizures were absent. Cranial MRI demonstrated bifrontal cystic tumorous lesions with partial contrast rims, as well as space-occupying focal lesions of the caudate nuclei. Spinal MRI revealed swelling of the lumbar and cervical spinal cord. CSF and blood chemistry showed normal results. Histopathology of a subcortical lesion showed large amounts of Rosenthal fibers and protein droplets characteristic of Alexander disease. - XY Liu 00006152
0000000033 A 4-year-old boy presented several times with hemiclonic seizures with eye deviation for a few minutes at 28 days after birth. Electroencephalogram showed independent sharp waves in the right and left temporal area. Magnetic resonance imaging showed high intensity T1-weighted images in the white matter of the frontal lobe and basal ganglia. He showed no head control at 4 years of age, and his weight gain was insufficient. He did not show macrocephaly. At 4 years of age, he died of bacterial pneumonia and septic shock. - XY Liu 00006153
0000000034 Neonatal AxD is a rare phenotype with onset in the first month of life. The proband, belonging to a large pedigree with dominantly inherited benign familial neonatal epilepsy (BFNE), had a phenotype distinct from the rest of the family, with hypotonia and macrocephaly in addition to drug-resistant neonatal seizures. The patient deteriorated and passed away at 6 weeks of age. The pathological and neuroimaging data were consistent with the diagnosis of AxD. - XY Liu 00006154
0000000035 a 12-year-old girl who showed intermittent exotropia at 3 years of age and central precocious puberty at 7 years of age. The periventricular and medulla oblongata showed high signal intensity on T2-weighted magnetic resonance imaging. - XY Liu 00006155
0000000036 Symptoms of the female, 65-year-old patient started with occasionally asymmetric motor impairment and concluded, 23 months later, with a lack of spontaneous movement in all four limbs, reduced consciousness, an acute respiratory problem, and eventually lethal exitus. The most striking characteristics were a cerebellar syndrome with subsequent clinical signs due to brainstem and spinal cord involvement. - XY Liu 00006156
0000000037 A 3-month-old girl diagnosed with infantile AxD presented with severe intractable seizures and a deteriorated neurological state. - XY Liu 00006158
0000000038 A 41-year-old woman presented with short-stepped gait from 20 years old and with repeated loss of consciousness from 21 years old. She had a deep cerebral white matter lesion on brain MRI at 34 years of age, but she did not reach a definitive diagnosis. At the age of 41, the gait disorder rapidly worsened after fall and fall-related head trauma. She had fixation nystagmus, dysphonia, speech disorder and exaggerated tendon reflexes. Her bilateral plantar reflex was positive, and she was not able to walk by herself. The brain and cervical MRI showed atrophy of the medulla and upper spinal cord and a deep cerebral white matter lesion. - XY Liu 00006159
0000000039 She presented with psychomotor retardation in infancy and regressed after age 5. Brain computed tomography scans showed bilateral low frontal white matter density. She became quadriplegic with bulbar palsy and was intellectually handicapped after a measles infection at age 7. Tube feeding was introduced because of dysphagia at age 15. Noninvasive positive pressure ventilation was required due to central hypoventilation in her early thirties. She died of neurogenic respiratory failure at 39 years. Autopsy findings revealed a markedly atrophic brain (709 g, -6.0 standard deviation), especially in the frontal lobe, cerebellum, and brainstem portions. We found demyelination, gliosis, and cystic lesions throughout the brain, and we saw Rosenthal fibers accumulating in the perivascular spaces. We also identified a variety of abnormalities in other organs such as pancreatic necrosis, completely desquamated epithelium in the lower esophagus and stomach, foreign-body giant cells in the colon submucosa, glomerular sclerosis, and multiple bladder stones. - XY Liu 00006160
0000000040 Parkinsonism phenotype in a family with adult onset Alexander disease - XY Liu 00006162
0000000041 A 50-year-old woman developed gait disturbances and dysarthria since the past 2 years. She also presented with dystonia and hypokinesia of her left lower limb, and orthostatic hypotension. The dopamine transporter SPECT with123I ioflupane showed abnormal scans in bilateral striatum. - XY Liu 00006163
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