Solving the hypomyelination conundrum - Imaging perspectives

Malik, Prateek; Muthusamy, Karthik; Mankad, Kshitij; Shroff, Manohar; Sudhakar, Sniya

doi:10.1016/j.ejpn.2020.04.007

Cited by 9 publications

(17 citation statements)

References 35 publications

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“…Repeated MRI images are recommended to distinguish primary hypomyelination from delayed myelination with respective variable etiologies. 40 Pattern recognition of MRI findings also has proven useful to define demyelinating leukodystrophies in veterinary medicine. 17, 21-23, 41, 42 We observed transient hyperammonemia which normalized over a few weeks in the absence of portosystemic shunting.…”

Section: Discussionmentioning

confidence: 99%

“…Pattern recognition of MRI findings has evolved as a critical tool for definition of hypomyelinating leukodystrophies in humans. Repeated MRI images are recommended to distinguish primary hypomyelination from delayed myelination with respective variable etiologies 40 . Pattern recognition of MRI findings also has proven useful to define demyelinating leukodystrophies in veterinary medicine 17, 21–23, 41, 42 …”

Section: Discussionmentioning

confidence: 99%

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A hypomyelinating leukodystrophy in German Shepherd dogs

Quitt¹,

Brühschwein²,

Matiasek

et al. 2021

Veterinary Internal Medicne

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Background: Shaking puppy syndrome is commonly attributed to abnormal myelination of the central nervous system.Hypothesis/Objectives: To report the long-term clinical course and the imaging characteristics of hypomyelinating leukodystrophy in German Shepherd dogs.Animals and Methods: Three related litters with 11 affected dogs.Results: The 11 affected dogs experienced coarse, side-to-side tremors of the head and trunk, which interfered with normal goal-oriented movements and disappeared at rest. Signs were noticed shortly after birth. Nine dogs were euthanized, 3 dogs underwent pathological examination, and 2 littermates were raised by their breeder. Tremors improved gradually until 6 to 7 months of age. Adult dogs walked with severe residual pelvic limb ataxia. One dog developed epilepsy with tonic-clonic seizures at 15 months of age. Conventional magnetic resonance imaging (MRI) disclosed homogenous hyperintense signal of the entire subcortical white matter in 3 affected 7-week-old dogs and a hypointense signal in a presumably unaffected littermate. Subcortical white matter appeared isointense to gray matter at 15 and 27 weeks of age on repeated MRI. Abnormal white matter signal with failure to display normal gray-white matter contrast persisted into adulthood. Cerebellar arbor vitae was not visible at any time point. Clinical signs, MRI findings, and pathological examinations were indicative of a hypomyelinating leukodystrophy. All parents of the affected litters shared a common ancestor and relatedness of the puppies suggested an autosomal recessive mode of inheritance. Conclusion:We describe a novel hypomyelinating leukodystrophy in German Shepherd dogs with a suspected inherited origin.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A hypomyelinating leukodystrophy in German Shepherd dogs

Quitt¹,

Brühschwein²,

Matiasek

et al. 2021

Veterinary Internal Medicne

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“…The first step is to identify features of hypomyelination as these form the largest subgroup of leukodystrophies. A diffuse reduction in expected myelin for age with T2 hyperintensity and variable T1 hypointensity may be seen (18). If the first MRI is performed in infancy, a repeat MRI following a minimum period of 6 months is required to confirm hypomyelination (as opposed to delayed myelin maturation).…”

Section: White Matter Involvementmentioning

confidence: 99%

Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide

Biswas¹,

Malhotra

Mankad³

et al. 2021

Transl Pediatr

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Inborn errors of metabolism (IEM) although individually rare, together constitute a significant proportion of childhood neurological disorders. Majority of these disorders occur due to deficiency of an enzyme in a specific metabolic pathway, leading to damage by accumulation of a toxic substrate or deficiency of an essential metabolite. Early diagnosis is crucial in many of these conditions to prevent or minimise brain damage. Whilst many of the neuroimaging features are nonspecific, certain disorders demonstrate specific patterns due to selective vulnerability of different structures to different insults. Along with clinical and biochemical profile, neuroimaging thus plays a pivotal role in differentiating metabolic disorders from other causes, in providing a differential diagnosis or suggesting a metabolic pathway derangement, and on occasion also helps make a specific diagnosis. This allows initiation of targeted metabolic and genetic work up and treatment. Familiarity with the clinical features, relevant biochemical features and neuroimaging findings of common metabolic disorders to facilitate a prompt diagnosis cannot thus be overemphasized. In this article, we describe the latest classification scheme, the clinical and biochemical clues and common radiological patterns. The diagnostic algorithm followed in daily practice after clinico-radiological phenotyping is alluded to and illustrated by clinical vignettes. Focused sections on neonatal metabolic disorders and mitochondrial disorders are also provided. The purpose of this article is to provide a brief overview and serve as a practical primer to clinical and radiological phenotypes and diagnostic aspects of IEM.

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“…We note that incorrect classification of delayed myelination as hypomyelination is a cause for concern in the literature, which has been highlighted in recent reviews. 8 Additionally, although we recognize Urbik et al's "genes with hypomyelination" list intended to identify all genes associated with some degree of hypomyelination, we would like to stress the importance of documenting whether disorders are truly primary hypomyelinating leukodystrophies or primary neuronal diseases with associated hypomyelination or slowly progressing myelination. We do also appreciate that knowledge on disease pathology is limited in many disorders, making classifications difficult.…”

mentioning

confidence: 99%

“…We note that incorrect classification of delayed myelination as hypomyelination is a cause for concern in the literature, which has been highlighted in recent reviews. 8…”

mentioning

confidence: 99%