Ellis-van Creveld Syndrome and Dyserythropoiesis

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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First case of COVID-19 infection in a adult patient with Ellis-van Creveld Syndrome

10.21203/rs.3.rs-237427/v1 ◽

2021 ◽

Author(s):

Isabelle Piazza ◽

Paolo Ferrero

Keyword(s):

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Heart Defects ◽

Autosomal Recessive Disorder ◽

Endocardial Cushions ◽

Specific Therapy ◽

Case Presentation ◽

Septal Defects ◽

First Case ◽

Ellis Van Creveld Syndrome

Abstract Background: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, the features of the syndrome are: chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation resulting in dwarfism, teeth and craniofacial abnormalities and heart defects (mostly endocardial cushions and atrial septal defects). Case presentation: We describe the first case of COVID-19 infection in a 24-years-old girl, diagnosed with EVC syndrome. The patient suffered only from a mild illness, she remained stable with normal saturation without need of neither respiratory support nor specific therapy and she was rapidly discharged.Conclusions: This case appraises the pathophiosiologic interplay between different specific prognostic variable in a syndromic patient with congenital heart disease and COVID-19.

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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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Arginase Deficiency Presenting as Cerebral Palsy

PEDIATRICS ◽

10.1542/peds.91.5.995 ◽

1993 ◽

Vol 91 (5) ◽

pp. 995-996

Author(s):

ANGELA E. SCHEUERLE ◽

ROBERT MCVIE ◽

ARTHUR L. BEAUDET ◽

STUART K. SHAPIRA

Keyword(s):

Cerebral Palsy ◽

Autosomal Recessive ◽

Urea Cycle ◽

Case Reports ◽

Growth Failure ◽

Autosomal Recessive Disorder ◽

Psychomotor Retardation ◽

Uncomplicated Pregnancy ◽

Arginase Deficiency ◽

Cycle Disorders

Arginase catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle. The enzyme deficiency disease, argininemia, is a rare autosomal recessive disorder which presents with progressive psychomotor retardation, growth failure, seizures, and spasticity affecting the lower extremities more than the upper.1 It does not, however, commonly have the severe hyperammonemia seen with other urea cycle disorders.1,2 We describe two unrelated patients, previously thought to have cerebral palsy, who were later found to have arginase deficiency. This suggests that the condition may be underdiagnosed because of its relatively mild symptoms. CASE REPORTS Patient 1, a 9-year-old boy, was born at term after an uncomplicated pregnancy to nonconsanguineous African-American parents.

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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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Orthodontic Treatments of Papillon-Lefevre Syndrome: Two Case Reports

Journal of The Pakistan Dental Association ◽

10.25301/jpda.302.132 ◽

2021 ◽

Vol 30 (02) ◽

pp. 132-138

Author(s):

Laila Fawzi Baidas ◽

Keyword(s):

Orthodontic Treatment ◽

Autosomal Recessive ◽

Case Reports ◽

Autosomal Recessive Disorder ◽

Mixed Dentition ◽

Permanent Teeth ◽

Dental Arch ◽

Facial Appearance ◽

Deciduous Dentition ◽

Palmoplantar Hyperkeratosis

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early onset of severe destructive periodontitis causing premature loss of both deciduous and permanent dentitions at a young age. In this article two cases of patients with Papillon-Lefevre syndrome in late mixed dentition are presented. The objective of these case reports was to illustrate that under a controlled regime of periodontal treatment, orthodontic treatment is possible in patients with Papillon-Lefevre syndrome. In both cases, the deciduous dentition was lost prematurely shortly after eruption. The permanent teeth erupt without any guidance, and this can lead to loss of space, crowding, and collapse of the dental arch. The aim of the treatment was to expand the arch, create space to allow normal eruption of the permanent teeth, and stabilize the occlusion to help the patient achieve a normal facial appearance rather than the collapsed appearance caused by early extractions. KEYWORDS: Papillon-Lefevre Syndrome, Orthodontics, Mixed dentition, Case reports

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Carnitine Palmitoyltranferase Type 1 Deficiency: A Case Report of Fatty Acid Oxidation Disorder Encephalopathy

Case Reports in Clinical Practice ◽

10.18502/crcp.v5i4.5052 ◽

2020 ◽

Author(s):

Pantea Tajik ◽

Amir Hossein Goudarzian ◽

Zeinab Pourzahabi

Keyword(s):

Case Report ◽

Fatty Acid ◽

Fatty Acid Oxidation ◽

Autosomal Recessive ◽

Case Reports ◽

Autosomal Recessive Disorder ◽

Acid Oxidation ◽

Ketotic Hypoglycemia ◽

Recessive Defect ◽

Carnitine Palmitoyltransferase 1

Background: Carnitine palmitoyltransferase-1 (CPT-1) deficiency is a rare autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fewer than 30 case reports. Case report: A 30-month-old child with fever and loss of consciousness was referred to our hospital. She had symptoms of colds for three days that were treated, but she had anorexia.Her abdomen was soft and hepatomegaly 5 cm below the edge of the rib was detected. According to a neurological consultation, with the probability of a seizure, the patient beganto receive levetiracetam. The patient was treated with sodium benzoate due to her decreased level of consciousness and increased blood ammonia (300). In the acylcarnitine profile, mildlyelevated levels of single acylcarnitine were seen to confirm the diagnosis of CPT-1 deficiency. Conclusions: CPT-1 deficiency is a rare autosomal recessive defect of mitochondrial longchain fatty acid oxidation that presents as an acute “Reye-like” hepatic encephalopathy andnon-ketotic hypoglycemia, developmental delay, and hepatomegaly.

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Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients’ Dental Management

Case Reports in Pediatrics ◽

10.1155/2021/6637180 ◽

2021 ◽

Vol 2021 ◽

pp. 1-6

Author(s):

Lorna Hirst ◽

Gehan Abou-Ameira ◽

Simon Critchlow

Keyword(s):

Autosomal Recessive ◽

Case Reports ◽

Autosomal Recessive Disorder ◽

Bone Dysplasia ◽

Hypophosphataemic Rickets ◽

Tertiary Referral Hospital ◽

Street Hospital ◽

Great Ormond Street Hospital ◽

Dental Management ◽

Raine Syndrome

Raine Syndrome (RS) also referred to as lethal osteosclerotic bone dysplasia describes an exceptionally rare autosomal recessive disorder with an estimated prevalence of <1 in 1,000,000. Endocrinological manifestations such as hypophosphataemic rickets depict a recent finding within the phenotypic spectrum of nonlethal RS. The dental sequelae of hypophosphataemic rickets are significant. Spontaneous recurrent abscesses on noncarious teeth result in significant odontogenic pain and multiple dental interventions. The dental presentations of nonlethal RS are less widely described within the literature. Amelogenesis Imperfecta (AI), however, was recently postulated as a key characteristic. This article presents the dental manifestations and extensive restorative and oral surgical intervention of three siblings with hypophosphataemic rickets secondary to Raine Syndrome treated at Great Ormond Street Hospital for Children, a tertiary referral hospital.

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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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A Newborn Infant With Poor Feeding: Non-ketotic Hyperglycinemia

International Journal of Enteric Pathogens ◽

10.15171/ijep.2019.28 ◽

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.

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