A Newborn Infant With Poor Feeding: Non-ketotic Hyperglycinemia

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.

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Papillon-Lefevre Syndrome: Challenge for Periodontal Management

Journal of Nepalese Society of Periodontology and Oral Implantology ◽

10.3126/jnspoi.v3i2.30891 ◽

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

Cardiology in the Young ◽

10.1017/s1047951120004953 ◽

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.

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Ellis-van Creveld Syndrome and Dyserythropoiesis

Archives of Pathology & Laboratory Medicine ◽

10.5858/2005-129-0680-ecsad ◽

2005 ◽

Vol 129 (5) ◽

pp. 680-682 ◽

Cited By ~ 1

Author(s):

Deven Scurlock ◽

Daniel Ostler ◽

Andy Nguyen ◽

Amer Wahed

Keyword(s):

Myelodysplastic Syndrome ◽

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Case Reports ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Clinical Findings ◽

Cardiac Defects ◽

Ellis Van Creveld Syndrome ◽

Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

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Warmblood fragile foal syndrome causative single nucleotide polymorphism frequency in horses in Ireland

Irish Veterinary Journal ◽

10.1186/s13620-021-00206-1 ◽

2021 ◽

Vol 74 (1) ◽

Author(s):

Áine Rowe ◽

Sharon Flanagan ◽

Gerald Barry ◽

Lisa M. Katz ◽

Elizabeth A. Lane ◽

...

Keyword(s):

Autosomal Recessive ◽

Scientific Literature ◽

Genetic Test ◽

Low Frequency ◽

Autosomal Recessive Disorder ◽

Causative Mutation ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Hair Samples ◽

Heterozygous Carriers

Abstract Background Warmblood Fragile Foal Syndrome (WFFS) is an autosomal recessive disorder caused by a mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene. Homozygosity for the mutation results in defective collagen synthesis which clinically manifests as the birth of non viable or still born foals with abnormally fragile skin. While the mutation has been identified in non Warmblood breeds including the Thoroughbred, to date all homozygous clinically affected cases reported in the scientific literature are Warmblood foals. The objective of this study was to investigate the carrier frequency of the mutation in the Thoroughbred and sport horse populations in Ireland. Methods A test was developed at the UCD School of Veterinary Medicine using real-time PCR to amplify the PLOD1 gene c.2032G > A variant. A subset of the samples was also submitted to an external laboratory with a licensed commercial WFFS genetic test. Results Warmblood Fragile Foal Syndrome genotyping was performed on hair samples from 469 horses representing 6 different breeds. Six of 303 (1.98%) sport horses tested and three of 109 (2.75%) Thoroughbreds tested were heterozygous for the WFFS polymorphism (N/WFFS). The WFFS polymorphism was not identified in the Standardbred, Cob, Connemara, or other pony breeds. Conclusions The study identified a low frequency of the WFFS causative mutation in sport horses and Thoroughbreds in Ireland, highlighting the importance of WFFS genetic testing in order to identify phenotypically normal heterozygous carriers and to prevent the birth of nonviable foals.

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Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: late diagnosis and gender reassignment in a two-year-old child

Problems of Endocrinology ◽

10.14341/probl12749 ◽

2021 ◽

Vol 67 (5) ◽

pp. 53-57

Author(s):

N. Yu. Raygorodskaya ◽

E. P. Novikova ◽

A. N. Tyulpakov ◽

M. A. Kareva ◽

N. A. Nikolaeva ◽

...

Keyword(s):

Autosomal Recessive ◽

Clinical Case ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Compound Heterozygous ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Gender Reassignment ◽

And Gender ◽

21 Hydroxylase Deficiency

11β-hydroxylase deficiency is a rare autosomal recessive disorder due to impaired steroidogenesis in the adrenal cortex caused by pathogenic mutations in the CYP11B1 gene. The main clinical manifestations are determined by a deficiency of cortisol, ACTH hyperproduction, excessive androgens secretion and the accumulation of 11-deoxycorticosterone, which leads to the development of arterial hypertension. In the diagnostic search, it is important to take into account the ethnicity of the patient, since the frequency of the disease and the prevalence of mutations differ between ethnic groups. The article presents a clinical case of 11β-hydroxylase deficiency as the result of compound heterozygous mutations in the CYP11B1 gene in a patient of Turkic origin. This case shows the clinical manifestations and the development of complications of 11β-hydroxylase deficiency, the stages of differential diagnosis of patients with 21-hydroxylase deficiency.

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Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease

BMJ Case Reports ◽

10.1136/bcr-2021-244240 ◽

2021 ◽

Vol 14 (12) ◽

pp. e244240

Author(s):

Ryan Curtis Roopnarinesingh ◽

Noel Edward Donlon ◽

John V Reynolds

Keyword(s):

Rare Disease ◽

Enzymatic Degradation ◽

Autosomal Recessive ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Cartilage Destruction ◽

Homogentisic Acid ◽

Connective Tissues ◽

Tendon Ruptures ◽

Published Research

Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid (HGA) oxidase which when absent, leads to an accumulation of HGA. Without this enzymatic degradation, HGA deposits in connective tissues resulting in pigmentation (ochronosis), plaque formation and accelerated cartilage destruction. With this, many patients who suffer from AKU develop ochronotic arthropathies, tendon ruptures, fractures, and chronic joint pain. Similarly, patients can develop cardiac valvular dysfunction and interstitial renal disease. Our two cases highlight the array of pathologies seen in AKU and, in light of newly published research, give us a platform from which we can discuss the developments in management of this rare disease.

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Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings

Molecular Syndromology ◽

10.1159/000515645 ◽

2021 ◽

pp. 1-5

Author(s):

Miroslava Brndiarova ◽

Martin Mraz ◽

Zuzana Kolkova ◽

Frantisek Cisarik ◽

Peter Banovcin

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Autosomal Recessive ◽

Primary Cilia ◽

Tubulointerstitial Nephritis ◽

Clinical Manifestations ◽

Failure To Thrive ◽

Autosomal Recessive Disorder ◽

Functional Development ◽

Sensenbrenner Syndrome

Sensenbrenner syndrome is a very rare autosomal recessive disorder caused by variants in genes involved in the functional development of primary cilia. Typical clinical manifestations include craniofacial and skeletal abnormalities, hence the alternative name cranioectodermal dysplasia. Chronic kidney disease due to progressive tubulointerstitial nephritis (nephronophthisis) has been described in these patients. The authors present 2siblings with severe anorexia, failure to thrive, chronic kidney disease, and angel-shaped middle phalanges. Two previously described variants p.(Leu641*) and p.(Asp841Val) were identified in the WDR35 gene which is most commonly affected in this condition. Analysis of all coding exons of the GDF5 gene was normal. This is the first report of Sensenbrenner syndrome presenting with severe anorexia and failure to thrive at early age. Angel-shaped middle phalanges in the absence of the GDF5 variant may represent an overlapping phenotypic manifestation of ciliopathy.

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Wilson's disease: A rare autosomal recessive disorder of copper metabolism

Journal of Chitwan Medical College ◽

10.3126/jcmc.v4i2.10866 ◽

2014 ◽

Vol 4 (2) ◽

pp. 51-53

Author(s):

RR Pradhan ◽

J Gupta

Keyword(s):

Autosomal Recessive ◽

Wilson’S Disease ◽

Clinical Manifestations ◽

Copper Toxicity ◽

Copper Metabolism ◽

Autosomal Recessive Disorder ◽

Wilson's Disease ◽

Medical College ◽

Ocular Manifestations ◽

Membrane Bound

Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, a membrane-bound copper-transporting ATPase. Clinical manifestations are caused by copper toxicity and primarily involve the liver, the brain and the eye. Because effective treatment is available, it is important to make this diagnosis early. We report a patient who developed features of neurological and ocular manifestations: incoordination and tremor and blurring of vision with presence of Kayser-Fleischer ring circling the cornea but no signs of hepatic dysfunction. DOI: http://dx.doi.org/10.3126/jcmc.v4i2.10866 Journal of Chitwan Medical College 2014; 4(2): 51-54

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Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum

Molecular Syndromology ◽

10.1159/000513078 ◽

2021 ◽

Vol 12 (2) ◽

pp. 106-111

Author(s):

Gizem Ürel-Demir ◽

Büşra Aydın ◽

Beren Karaosmanoğlu ◽

Özlem Akgün-Doğan ◽

Ekim Zihni Taşkıran ◽

...

Keyword(s):

Autosomal Recessive ◽

Clinical Manifestations ◽

Gene Mutations ◽

Autosomal Recessive Disorder ◽

Pathogenic Mutation ◽

Genetic Alterations ◽

High Rate ◽

Facial Features ◽

Psychomotor Delay ◽

Oculoauriculovertebral Spectrum

Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder which represents a phenotype mainly involving craniofacial and neurodevelopmental manifestations due to UBE3B gene mutations. The vast majority of the affected individuals exhibit microcephaly, eye abnormalities, and typical facial gestalt including blepharophimosis, ptosis, telecanthus, upslanting palpebral fissures, dysplastic ears, and micrognathia. We encountered 2 siblings in whom severe psychomotor delay, distinctive facial features, hearing loss, and respiratory distress were observed. Some clinical manifestations of the patients, including epibulbar dermoid, microtia, and multiple preauricular tags, were reminiscent of the oculoauriculovertebral spectrum. However, 2 affected siblings exhibited a similar clinical picture consisting of microcephaly, severe developmental and cognitive disabilities, failure to thrive, and dysmorphic features, which were not fully consistent with oculoauriculovertebral spectrum. Also, hypoplastic nails, considered as a core manifestation of Coffin-Siris syndrome, were present in our patients. Therefore, whole-exome sequencing was carried out in order to identify the underlying genetic alterations, contributing to the complex phenotype shared by the 2 siblings. A homozygous pathogenic mutation was found in both affected siblings in the UBE3B gene which caused Kaufman oculocerebrofacial syndrome. Kaufman oculocerebrofacial syndrome should be considered among the autosomal recessive causes of blepharophimosis-mental retardation syndromes, particularly in populations with a high rate of consanguineous marriages, even if there are dysmorphic facial features that are not typically associated with the phenotype.

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Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

International Journal of Phonosurgery & Laryngology ◽

10.5005/jp-journals-10023-1065 ◽

2013 ◽

Vol 3 (2) ◽

pp. 61-64

Author(s):

Deepthi Koganti

Keyword(s):

Oral Cavity ◽

Clinical Features ◽

Autosomal Recessive ◽

Periodic Acid ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Internal Organs ◽

Periodic Acid Schiff ◽

Laryngeal Involvement ◽

Hyaline Material

ABSTRACT Urbach-Wiethe disease is a rare, autosomal recessive disorder, characterized by infiltration of periodic acid-Schiff positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. Laryngeal involvement is typical and causes hoarseness of voice. In this paper, we present a case of a middle-aged female with clinical features suggestive of Urbach-Wiethe disease. This entity is of interest to the otolaryngologist as it is a rare cause of hoarseness of voice. How to cite this article Koganti D. Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice. Int J Phonosurg Laryngol 2013;3(2):61-64.

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