Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease

Girard, B.; Bonnemains, C.; Schmitt, Étienne; Raffo, Emmanuel; Bilbault, Claire

doi:10.1177/1352458516646087

Cited by 22 publications

(11 citation statements)

References 10 publications

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“…It is a treatable disorder that presents distinctly from the classical form of biotinidase deficiency ( 42 ). This challenging diagnosis has been reported in adult ( 43 ) and pediatric patients ( 44 – 46 ). Spinal cord infarct may present with sudden, painful acute and rapidly evolving weakness and sensory abnormalities.…”

Section: Review Of Current Knowledgementioning

confidence: 88%

Pediatric NMOSD: A Review and Position Statement on Approach to Work-Up and Diagnosis

Tenembaum

Yeh

2020

Front. Pediatr.

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Neuromyelitis Optica Spectrum Disorder (NMOSD) is an inflammatory demyelinating disease of the central nervous system (CNS) primarily affecting the optic nerves and spinal cord, but also involving other regions of the CNS including the area postrema, periaqueductal gray matter, and hypothalamus. Knowledge related to pediatric manifestations of NMOSD has grown in recent years, particularly in light of newer information regarding the importance of not only antibodies to aquaporin 4 (AQP4-IgG) but also myelin oligodendrocyte glycoprotein (MOG-IgG) in children manifesting clinically with this syndrome. In this review, we describe the current state of the knowledge related to clinical manifestations, diagnosis, and chronic therapies for children with NMOSD, with emphasis on literature that has been published in the last 5 years. Following the review, we propose recommendations for the assessment/follow up clinical care, and treatment of this population.

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Section: Review Of Current Knowledgementioning

confidence: 88%

Pediatric NMOSD: A Review and Position Statement on Approach to Work-Up and Diagnosis

Tenembaum

Yeh

2020

Front. Pediatr.

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“…These excellent outcomes are in stark contrast with those of patients with late diagnosis of biotinidase deficiency, suffering from irreversible neurological damages if treated late and being even at risk of death if left untreated [16] . If newborn screening is not performed, indeed, the clinical diagnosis of biotinidase deficiency is invariably arduous, as biotinidase deficiency can mimic atopic dermatitis and a wide range of neurological conditions, including neuromyelitis optica, optic atrophy, and myelopathies [17] , [18] , [19] , [20] , [21] , [22] , [23] . Despite these clinical evidences and the cost-effectiveness of newborn screening for biotinidase deficiency [24] , however, the application of this preventive procedure is still not uniform in Europe (differently from the U.S.).…”

Section: Discussionmentioning

confidence: 99%

Neonatal screening for biotinidase deficiency: A 30-year single center experience

Porta

Pagliardini

Celestino

et al. 2017

Molecular Genetics and Metabolism Reports

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We reviewed the outcome of newborn screening for biotinidase deficiency performed at our department since 1987. Among 1,097,894 newborns screened, 461 were recalled, and 18 were identified as affected by complete or partial biotinidase deficiency (incidence 1:61,000, false positive rate 0.04%). The common missense mutation Q456H was found in 80% of patients with profound biotinidase deficiency. Of them, one patient harbored the novel mutation M399I in compound heterozygosity (M399I/Q456H). The complex allele A171T/D444H in cis was found in two patients with profound biotinidase deficiency (in homozygosity and in compound heterozygosity with the R211H mutation, respectively) and in one patient with partial biotinidase deficiency (in compound heterozygosity with the protective allele D444H in trans).All detected patients were treated and followed up at our Center until present. Biotin therapy (10–20 mg/day) allowed the full prevention of clinical symptoms in all patients with no adverse effects. These excellent outcomes confirm that newborn screening for biotinidase deficiency is a very effective secondary prevention program.

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“…However, later onset cases are also reported, with a subacute or chronic clinical presentation mostly characterised by spastic paraparesis and inconstant optic atrophy 22 23. Spinal MRI frequently shows signal alterations with extensive and transverse inflammatory-like T2 hyperintensity and gadolinium enhancement 24. Selective involvement of spinal cord tracts (dorsal columns, anterolateral tracts and anterior columns) has also been reported 22 23.…”

Section: Genetic and Metabolic Causes Of Medullary Signal Alterationsmentioning

confidence: 99%

Spinal cord involvement in adult-onset metabolic and genetic diseases

Marelli

Salsano

Politi

et al. 2018

J Neurol Neurosurg Psychiatry

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In adulthood, spinal cord MRI abnormalities such as T2-weighted hyperintensities and atrophy are commonly associated with a large variety of causes (inflammation, infections, neoplasms, vascular and spondylotic diseases). Occasionally, they can be due to rare metabolic or genetic diseases, in which the spinal cord involvement can be a prominent or even predominant feature, or a secondary one. This review focuses on these rare diseases and associated spinal cord abnormalities, which can provide important but over-ridden clues for the diagnosis. The review was based on a PubMed search (search terms: 'spinal cord' AND 'leukoencephalopathy' OR 'leukodystrophy'; 'spinal cord' AND 'vitamin'), further integrated according to the authors' personal experience and knowledge. The genetic and metabolic diseases of adulthood causing spinal cord signal alterations were identified and classified into four groups: (1) leukodystrophies; (2) deficiency-related metabolic diseases; (3) genetic and acquired toxic/metabolic causes; and (4) mitochondrial diseases. A number of genetic and metabolic diseases of adulthood causing spinal cord atrophy without signal alterations were also identified. Finally, a classification based on spinal MRI findings is presented, as well as indications about the diagnostic work-up and differential diagnosis. Some of these diseases are potentially treatable (especially if promptly recognised), while others are inherited as autosomal dominant trait. Therefore, a timely diagnosis is needed for a timely therapy and genetic counselling. In addition, spinal cord may be the main site of pathology in many of these diseases, suggesting a tempting role for spinal cord abnormalities as surrogate MRI biomarkers.

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Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease

Abstract: BD is a treatable condition that may closely mimic the neurological findings of LETM and NMOSD.

Cited by 22 publications

References 10 publications

Pediatric NMOSD: A Review and Position Statement on Approach to Work-Up and Diagnosis

Pediatric NMOSD: A Review and Position Statement on Approach to Work-Up and Diagnosis

Neonatal screening for biotinidase deficiency: A 30-year single center experience

Spinal cord involvement in adult-onset metabolic and genetic diseases

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