Answer for BIR CoW 25 Apr 2021
Poretti-Boltshauser Syndrome
Findings
Cerebellum appears dysplastic with multiple tiny cysts in both cerebellar hemispheres and enlarged fourth ventricle. Splaying of superior cerebellar peduncles present. Rest of the brain parenchyma appears normal
Discussion
Poretti-Boltshauser syndrome is a rare autosomal recessive non progressive neuro-ophthalmological disorder due to LAMA 1 gene mutations. Clinically presents with non progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia and retinopathy. On neuroimaging Poretti-Boltshauser syndrome is defined by cerebellar dysplasia with cysts and abnormal shape of the IV ventricle, in the absence of supratentorial anomalies and muscular involvement. Additional imaging features include hypoplasia of cerebellar vermis, mild brainstem abnormalities such as elongated midbrain or short pons. Besides the typical findings, few patients show splayed superior cerebellar peduncles and mild patchy T2/FLAIR hyperintensities in periventricular white matter. Lack of significant supratentorial anomalies and muscular involvement clearly distinguish Poretti-Boltshauser syndrome from alpha-dystroglycanopathies and GPR56-related bilateral frontoparietal polymicrogyria that are both characterized by cerebellar dysplasia with cysts (CDC).
REFERENCES:
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) – European journal of human genetics (2016) 24, 1262-1267 Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review – Case report SAGE journals, December 19, 2019 Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy – The American journal of Human Genetics 95, 227-234, August 7, 2014
Findings
Cerebellum appears dysplastic with multiple tiny cysts in both cerebellar hemispheres and enlarged fourth ventricle. Splaying of superior cerebellar peduncles present. Rest of the brain parenchyma appears normal
Discussion
Poretti-Boltshauser syndrome is a rare autosomal recessive non progressive neuro-ophthalmological disorder due to LAMA 1 gene mutations. Clinically presents with non progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia and retinopathy. On neuroimaging Poretti-Boltshauser syndrome is defined by cerebellar dysplasia with cysts and abnormal shape of the IV ventricle, in the absence of supratentorial anomalies and muscular involvement. Additional imaging features include hypoplasia of cerebellar vermis, mild brainstem abnormalities such as elongated midbrain or short pons. Besides the typical findings, few patients show splayed superior cerebellar peduncles and mild patchy T2/FLAIR hyperintensities in periventricular white matter. Lack of significant supratentorial anomalies and muscular involvement clearly distinguish Poretti-Boltshauser syndrome from alpha-dystroglycanopathies and GPR56-related bilateral frontoparietal polymicrogyria that are both characterized by cerebellar dysplasia with cysts (CDC).
REFERENCES:
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) – European journal of human genetics (2016) 24, 1262-1267 Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review – Case report SAGE journals, December 19, 2019 Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy – The American journal of Human Genetics 95, 227-234, August 7, 2014
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!