Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too

2020 ◽  
Author(s):  
Aakash Chandran Chidambaram ◽  
Milan Talwar ◽  
Ananthanarayanan Kasinathan ◽  
Reena Gulati ◽  
Tamil Selvan
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Neonatal Onset ◽  
Fetal Ventriculomegaly ◽  
Arrested Hydrocephalus ◽  
The Common ◽  
Refractory Seizures ◽  
Atypical Presentations ◽  
Drug Refractory Epilepsy ◽  
Lysine Metabolism

AbstractPyridoxine-dependent epilepsy (PDE) (OMIM 266100) is an autosomal recessive disorder of lysine metabolism secondary to antiquitin deficiency. The prototypical presentation is intractable neonatal seizures that do not respond to conventional antiseizure medication but are well controlled by pyridoxine supplementation. Atypical forms account for one-third of the PDE spectrum and may escape early diagnosis. The common atypical presentations include the prenatal onset of seizures, seizures onset as delayed as 3 years of age, autism, arrested hydrocephalus, and fetal ventriculomegaly. Herein, we describe a 9-month-old child with neonatal-onset refractory seizures who failed two short trials of pyridoxine therapy and was later diagnosed with PDE by molecular studies. Regardless of the therapeutic response, a prolonged course of pyridoxine therapy is justified to identify delayed responders in infants with drug-refractory epilepsy of no apparent etiology.

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

scholarly journals A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Amir Hasan Habibi ◽  
Saeed Razmeh ◽  
Omid Aryani ◽  
Mohammad Rohani ◽  
Laleh Taghavian ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Imaging Finding ◽  
Magnetic Resonance Imaging Finding ◽  
Autosomal Recessive Disorder ◽  
Resonance Imaging ◽  
Pantothenate Kinase ◽  
Common Presentation ◽  
The Common ◽  
Severity Of The Disease ◽  
Novel Variation

Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment, and spasticity. The typical magnetic resonance imaging finding is eye of the tiger sign in globus pallidus and not pathogenic and not found in all patients. In the present study, we describe two siblings who have a novel variation of the PANK2 gene. These patients with the same genotype, have different ages at the onset of disease and also the various severity of the disease. The description of these cases helps to understand this disease, its symptoms, pathogenesis, and its treatment.

scholarly journals A Newborn Infant With Poor Feeding: Non-ketotic Hyperglycinemia

2019 ◽  
Vol 7 (4) ◽  
pp. 134-136
Author(s):  
Masoumeh Ghesmati ◽  
Alireza Jashni Motlagh
Keyword(s):  
Cerebrospinal Fluid ◽  
Metabolic Disorder ◽  
Autosomal Recessive ◽  
Genetic Test ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Neonatal Onset ◽  
Glycine Metabolism ◽  
Newborn Girl ◽  
Rare Metabolic Disorder

Non-ketotic hyperglycinemia (NKH) is a rare autosomal recessive disorder affecting glycine metabolism that is a rare metabolic disorder in infants. The clinical manifestations of poor sucking, hypotonicity, lethargy, hiccups, and seizures develop within six hours to eight days of the birth of an otherwise healthy newborn. The present study introduced a newborn girl with poor feeding and hypotonia in the first day after birth with NKH. In addition, the patient was evaluated regarding hypotonia and poor feeding. The neonatal-onset NKH was diagnosed based on a markedly elevated cerebrospinal fluid/plasma glycine ratio of 0.32 and confirmed by the genetic test. It is extremely rare that NKH is manifested with poor feeding and hypotonia thus considering this diagnosis in infants with poor feeding and hypotonia is highly important.

scholarly journals Clinical and Biochemical Heterogeneity in an Italian Family with CPT II Deficiency due to Ser 113 Leu Mutation

2005 ◽  
Vol 32 (3) ◽  
pp. 316-320 ◽  
Author(s):  
Mubeen F. Rafay ◽  
E. Gordon Murphy ◽  
J. Denis McGarry ◽  
Petra Kaufmann ◽  
Salvatore DiMauro ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Prolonged Exercise ◽  
Autosomal Recessive Disorder ◽  
Muscle Stiffness ◽  
Italian Family ◽  
Molecular Features ◽  
Cultured Skin ◽  
The Common ◽  
Carnitine Palmitoyltransferase Ii ◽  
Cpt Ii Deficiency

ABSTRACT:Background:Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder which presents with recurrent myoglobinuria. Heterozygotes are usually asymptomatic.Methods:We correlate the clinical, biochemical and molecular features of a family in which the proband is homozygous for CPT II deficiency, due to the common Ser 113 Leu mutation.Results:The 20-year-old female proband presented at age three years with episodic myalgia and myoglobinuria, elevated creatine kinase (CK) of 3600 IU/L and had a 33% residual CPT II activity in cultured skin fibroblasts. Her 25-year-old dizygotic twin brothers presented with muscle stiffness following prolonged exercise but no overt pigmenturia and had interictal CKs up to 662 IU/L. Her parents and a 13-year-old brother are asymptomatic. An elder sister, not investigated, had recurrent pigmenturia and died at eight years with myoglobinuria. Molecular analysis revealed that the proband is homozygous for the Ser 113 Leu mutation. Her parents are heterozygotes with CPT II activities of 55% to 70%. Her younger brother is normal with 83% activity. The symptomatic twin brothers are heterozygous but demonstrated unexpectedly low CPT II activities of 40%, which may explain their phenotype.Conclusion:We postulate that there may be genetic, environmental and sex hormonal factors accounting for this manifesting heterozygosity and biochemical heterogeneity in CPT II deficiency.

scholarly journals Generalized Hyperpigmentation of Skin as an Atypical Presenting Feature in Wilson Disease

2018 ◽  
Vol 42 (1) ◽  
pp. 43-45
Author(s):  
Abdullahel Amaan ◽  
Md Rukunuzzaman ◽  
Khainoor Zahan ◽  
Khan Lamia Nahid ◽  
ASM Bazlul Karim
Keyword(s):  
Liver Disease ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Whole Body ◽  
Copper Accumulation ◽  
Diagnostic Dilemma ◽  
Common Causes ◽  
The Common

Background: Wilson disease is an autosomal recessive disorder of copper metabolism, where excessive copper accumulation occurs in various tissues. Although hepatic and neurological symptoms predominates, it may present with some other unusual features which sometimes confuses clinicians and makes a diagnostic dilemma. We present here an 11 years old boy presented with gradual darkening of whole body over last 2 months and jaundice for 5 month. His clinical features and laboratory parameters were suggestive of Wilson disease. Being one of the common causes of chronic liver disease (CLD) in childhood, Wilson disease may present with some atypical features like darkening of complexion.Bangladesh J Child Health 2018; VOL 42 (1) :43-45

scholarly journals Generalized hyperpigmentation in Wilson’s disease: An unusual association

2013 ◽  
Vol 04 (01) ◽  
pp. 70-72 ◽  
Author(s):  
Madhumita Nandi ◽  
Sumantra Sarkar ◽  
Rakesh Mondal
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Unusual Association ◽  
Diagnostic Difficulties ◽  
The Central Nervous System ◽  
Neurological Features ◽  
Atypical Presentations

ABSTRACTWilson’s disease, an autosomal recessive disorder of copper metabolism, most commonly presents either with hepatic or neurological features. But, it may sometimes have certain atypical presentations posing diagnostic difficulties. We report here a case of Wilson’s disease presenting with generalized hyperpigmentation of skin who also developed neurological manifestations subsequently. We aim to highlight the importance of keeping Wilson’s disease as one of the differentials in patients who present with hyperpigmentation and neurological symptoms compatible with copper deposits in the central nervous system and proceed for investigations accordingly.

scholarly journals Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

2021 ◽  
Vol 12 (1) ◽  
pp. 65
Author(s):  
Konrad Kaminiów ◽  
Magdalena Pająk ◽  
Renata Pająk ◽  
Justyna Paprocka
Keyword(s):  
Intellectual Disability ◽  
Vitamin B6 ◽  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Neonatal Seizures ◽  
Semialdehyde Dehydrogenase ◽  
Phenotypic Spectrum ◽  
Neonatal Onset ◽  
Toxic Metabolites ◽  
Refractory Seizures

Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive neurometabolic disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase (mutation in ALDH7A1 gene), more commonly known as antiquitin (ATQ). ATQ is one of the enzymes involved in lysine oxidation; thus, its deficiency leads to the accumulation of toxic metabolites in body fluids. PDE is characterized by persistent, recurrent neonatal seizures that cannot be well controlled by antiepileptic drugs but are responsive clinically and electrographically to daily pyridoxine (vitamin B6) supplementation. Although the phenotypic spectrum distinguishes between typical and atypical, pyridoxine-dependent is true for each. Diagnosis may pose a challenge mainly due to the rarity of the disorder and the fact that seizures may not occur until childhood or even late adolescence. Moreover, patients may not demonstrate an obvious clinical or electroencephalography response to the initial dose of pyridoxine. Effective treatment requires lifelong pharmacologic supplements of pyridoxine, and dietary lysine restriction and arginine enrichment should improve prognosis and avoid developmental delay and intellectual disability. The purpose of this review is to summarize briefly the latest reports on the etiology, clinical symptoms, diagnosis, and management of patients suffering from pyridoxine-dependent epilepsy.

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

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