Juvenile Metachromatic Leukodystrophy: A Case Report from Bangladesh

2018 ◽  
Vol 4 (2) ◽  
pp. 154-157
Author(s):  
Mohammad Ala Uddin ◽  
Ariful Islam ◽  
SK Azimul Hoque ◽  
Narayan Saha
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Metachromatic Leukodystrophy ◽  
Clinical Findings ◽  
Arylsulfatase A ◽  
Adult Onset ◽  
Juvenile Form ◽  
Responsible Gene ◽  
Typical History ◽  
Autosomal Recessive Manner

Metachromatic leukodystrophy (MLD) is the neurometabolic disease caused by deficiency of enzyme arylsulfatase a resulting in deficiency of sulfatide degradation. The responsible gene is arylsulfatase A gene and is inherited in an autosomal recessive manner. MLD is characterized by three clinical subtypes, defined primarily by age at presentation such as late infantile MLD, juvenile MLD, adult onset MLD. Here we report a case of Juvenile form of MLD that was identified by means of typical history, clinical findings and supported by nerve conduction study, typical MRI of brain findings and confirmed by enzyme assay.Journal of National Institute of Neurosciences Bangladesh, 2018;4(2): 154-157

scholarly journals Metachromatic Leucodystrophy: A Case Report

1970 ◽  
Vol 31 (2) ◽  
pp. 143-145 ◽  
Author(s):  
Subhana Karki ◽  
Ganesh Kumar Rai ◽  
Raju Kafle
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Metachromatic Leukodystrophy ◽  
Neurodegenerative Disorder ◽  
Neurological Symptoms ◽  
Arylsulfatase A ◽  
Live Births ◽  
Metachromatic Leucodystrophy ◽  
Deficient Activity

Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disorder characterized by deficient activity of the enzyme arylsulfatase-A. Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. A pathological hallmark of MLD is demyelination and neurodegeneration, causing various and ultimately lethal neurological symptoms. Its frequency is estimated to be 1/40,000 live births. The disease encompasses three clinical subtypes: late infantile (40% of the patients with MLD), juvenile (40%), and adult (20%).   DOI: 10.3126/jnps.v31i2.4644 J Nep Paedtr Soc 2010;31(2):143-145

scholarly journals Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

2021 ◽  
Vol 11 ◽  
Author(s):  
Lulu Xu ◽  
Meixiang Zhong ◽  
Yajuan Wang ◽  
Zhihong Wang ◽  
Jie Song ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Autosomal Recessive ◽  
Metachromatic Leukodystrophy ◽  
Gene Mutations ◽  
Arylsulfatase A ◽  
The Novel ◽  
Adult Onset ◽  
Exon 4 ◽  
First Time ◽  
Vision Disturbance

Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe vision disturbance, who was initially misdiagnosed as multiple sclerosis. Through genetic screening, this patient was later identified to have a full deletion of exon 4 and the novel p.P220L mutation in the arylsulfatase A (ARSA) gene. These mutations are reported for the first time in MLD. These data will help to update the mutation profiles of patients with MLD.

scholarly journals Metachromatic leukodystrophy: A case report

2016 ◽  
Vol 9 (1) ◽  
pp. 62
Author(s):  
Gopen Kumar Kundu ◽  
Shaheen Akhter ◽  
M. Mizanur Rahman
Keyword(s):  
Case Report ◽  
Brain Imaging ◽  
Enzyme Assay ◽  
Metachromatic Leukodystrophy ◽  
Juvenile Form ◽  
Typical History

<p>Metachromatic leuk:odystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the enzyme arylsulfa­tase A .Deficiency of this enzyme results in intralysosomal storage ofsphingolipid , cerebroside 3-sulfates (sulfatides), which are abundant in myelin of neurons. A pathological hallmark of MLD is demyelination and neurodegeneration.</p><p>A case of the juvenile form of MLD diagnosed by typical history, brain imaging and enzyme assay, is being reported here.</p>

scholarly journals A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY

2022 ◽  
Vol 71 (6) ◽  
pp. 2247-48
Author(s):  
Muhammad Mohsin Sajjad ◽  
Sidra Yousaf
Keyword(s):  
Autosomal Recessive ◽  
Metachromatic Leukodystrophy ◽  
Memory Loss ◽  
Lower Limbs ◽  
Slight Reduction ◽  
Lysosomal Storage ◽  
Juvenile Form ◽  
Poor School Performance ◽  
History Of ◽  
Magnetic Resonance Imaging Mri

Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination. We report a case of a 15-year-old girl with 6 months history of progressive muscular weakness, poor school performance, gradual memory loss and gait disturbance. Neurological examination was grossly normal, except mild muscle wastage in both upper and lower limbs and slight reduction of power globally in all limbs. Routine bloods including a lumbar puncture was normal and the diagnosis of metachromatic leukodystrophy was made on the findings of magnetic resonance imaging (MRI) brain.

scholarly journals Genetic testing for ocular coloboma

2017 ◽  
Vol 1 (s1) ◽  
pp. 29-31 ◽  
Author(s):  
Andi Abeshi ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Fundus Examination ◽  
Live Births ◽  
Autosomal Recessive Manner

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner associated with variations in the PAX6, ABCB6 and FZD5 genes and in an autosomal recessive manner associated with variations in the SALL2 gene. Overall prevalence is 1 per 100,000 live births. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, fundus examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature

2018 ◽  
Vol 154 (4) ◽  
pp. 181-186 ◽  
Author(s):  
Elifcan Taşdelen ◽  
Ceren D. Durmaz ◽  
Halil G. Karabulut
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Rare Condition ◽  
Clinical Findings ◽  
Homozygous Mutation ◽  
Nasal Bridge ◽  
Oculodentodigital Dysplasia ◽  
Autosomal Recessive Manner

Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of the eyes, teeth, and fingers. ODDD is caused by mutations in the GJA1 gene in chromosome 6q22 and inherited in an autosomal dominant manner in the majority of the patients. However, in recent clinical reports, autosomal recessive ODDD cases due to by GJA1 mutations were also described. Here, we report on a 14-year-old boy with microphthalmia, microcornea, narrow nasal bridge, hypoplastic alae nasi, prominent columnella, hypodontia, dental caries, and partial syndactyly of the 2nd and 3rd toes. These clinical findings were concordant with the diagnosis of ODDD, and a novel homozygous mutation (c.442C>T, p.Arg148Ter) was determined in the GJA1 gene leading to a premature stop codon. His phenotypically normal parents were found to be carriers of the same mutation. This is the third family in the literature in which ODDD segregates in an autosomal recessive manner.

scholarly journals Genetic testing for optic atrophy

2017 ◽  
Vol 1 (s1) ◽  
pp. 83-85
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Benedetto Falsini ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Live Births ◽  
Autosomal Recessive Manner

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for optic atrophy (OA). OA is mostly inherited in an autosomal dominant manner, rarely in an autosomal recessive manner, with an overall prevalence of 3/100,000 live births. It is caused by mutations in the OPA1, OPA3 and TMEM126A genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, OCT, visual evoked potentials (VEPs) and electroretinography. The genetic test is useful for confirming diagnosis, differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetically proven fanconi anemia: a case report

2016 ◽  
Vol 4 (1) ◽  
pp. 290
Author(s):  
Rugmini Kamalammal ◽  
Divya Narayanan Kutty
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Fanconi Anemia ◽  
Congenital Malformations ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Female Child ◽  
Clinical Findings ◽  
Genetic Studies

Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by congenital malformations, haematological problems and predisposition to malignancies. It was first described by Guido Fanconi, a Swiss Paediatrician in 1927. The prevalence of FA is 1 to 5 cases per million.The genes that have been found to be mutated in FA patients are called FANC. 16 different FANC genes have been reported, among which 60-65% account for the mutations seen in FANCA genes which is the most frequently seen in FA patients. The disease is most commonly seen in children between 5-15 years. Diagnosis is based on the congenital physical abnormalities and confirmed by genetic testing. Here we report a rare case of Fanconi Anemia in a 4 year old female child with the characteristic clinical findings and the diagnosis was confirmed by genetic studies.  

scholarly journals Epidermodysplasia Verruciformis: A Case Report and a Brief Review

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Bouabdella S ◽  
◽  
Aouali S ◽  
Zizi N ◽  
Dikhaye S ◽  
...  
Keyword(s):  
Human Papillomavirus ◽  
Case Report ◽  
Autosomal Recessive ◽  
Pityriasis Versicolor ◽  
Epidermodysplasia Verruciformis ◽  
Human Papillomavirus Infection ◽  
Papillomavirus Infection ◽  
Hands And Feet ◽  
Increased Susceptibility ◽  
Autosomal Recessive Manner

Epidermodysplasia verruciformis is an uncommon disorder that is transmitted in an autosomal recessive manner. It is characterized by increased susceptibility to human papillomavirus infection, which presents with hypo- or hyperpigmented macular lesions, pityriasis versicolor-like lesions, and an early tendency to transform into skin cancer. We present a case of a 40-year-old male with complaints of verrucous lesions of the hands and feet. Histopathology was suggestive of EV.

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