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Short Stature - Optic Atrophy - Pelger-Huët Anomaly Syndrome

SOPH


Presentation

  • Of note, immunological abnormalities were present in all 3 of these patients (2 European, 1 American). In 2015 Segarra, et al reported 2 additional patients (1 Swiss, 1 American) with biallelic mutations in NBAS and findings of SOPH syndrome.[epostersonline.com]
  • At the age of 12 months, she presented with salmonella bacteremia. At the age of 13 months, she presented with gastroenteritis. At the age of 15 months, she presented with follicular tonsillitis. At the age of 3 years, she presented with pneumonia.[saudijgastro.com]
  • In these conditions, nuclear bilobation is generally asymmetric and is present in roughly 25% (clonal disorders) to 50% (drug-induced) of granulocytes.[imagebank.hematology.org]
  • Data on the molecular nature of mutations in genes responsible for these hereditary diseases are presented in Table 111–1. Access to the complete content on Oxford Medicine Online requires a subscription or purchase.[m.oxfordmedicine.com]
  • Here we present a World Wide Web server to predict the effect of an nsSNP on protein structure and function.[scienceopen.com]
Recurrent Infection
  • infections: sepsis, pneumonia, otitis media, sinusitis, hepatitis (age 5) • natural killer cell lymphopenia, hypogammaglobulinemia, T-cell and B-cell lymphopenia • chronically elevated liver function tests, hepatosplenomegaly • Pelger-Huët anomaly of[epostersonline.com]
  • infection syndrome ( STAT3) Hyper-IgE recurrent infection syndrome, autosomal recessive ( DOCK8) Hyperinsulinemic hypoglycemia, familial, 1 ( ABCC8) Hyperinsulinemic hypoglycemia, familial, 2 ( KCNJ11) Hyperinsulinemic hypoglycemia, familial, 3 ( GCK[en.praenatal-medizin.de]
  • Infection Syndrome, Autosomal Recessive 2 Hyperimmunoglobulin E Syndrome 3 Hyperinsulinemic Hypoglycemia, Familial 3 2 Hyperinsulinemic Hypoglycemia, Familial 6 3 Hyperinsulinemic Hypoglycemia, Familial, 1 3 Hyperinsulinemic Hypoglycemia, Familial, 2[preventiongenetics.com]
Proportionate Short Stature
  • short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger–Huët anomaly of neutrophils.[link.springer.com]
Hepatosplenomegaly
  • […] vertebrae with suspected subluxation • recurrent infections: sepsis, pneumonia, otitis media, sinusitis, hepatitis (age 5) • natural killer cell lymphopenia, hypogammaglobulinemia, T-cell and B-cell lymphopenia • chronically elevated liver function tests, hepatosplenomegaly[epostersonline.com]
  • […] increased urine Cu Tx: D-penicillamine, Zn Familial chylomicronemia syndrome (Type I dyslipidemia) AR defect in lipoprotein lipase and ApoC-II resulting in elevated chylomicrons Manifestations: acute pancreatitis, lipemia retinalis, eruptive skin xanthomas, hepatosplenomegaly[quizlet.com]
  • […] renal anomalies Manitoba oculotrichoanal syndrome Fraser syndrome Ehlers-Danlos syndrome (EDS) Leprechaunism Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly[csirnotes.com]
  • HRPT2) Hyperpehnylalaninemia, BH4-deficient, B ( GCH1) Hyperphenylalaninemia, BH4-deficient, A ( PTS) Hyperphenylalaninemia, BH4-deficient, C ( QDPR) Hyperphenylalaninemia, BH4-deficient, D ( PCBD) Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly[en.praenatal-medizin.de]
Visual Impairment
  • Type your tag names separated by a space and hit enter Abstract A male child with cherubism, visual impairment due to optic atrophy and short stature is described. This association has not been reported previously.[unboundmedicine.com]
Osteopenia
  • [(Glu943*)];[(Arg1914His)]0 (0) ( 6)Poor calvarium ossification, wide open fontanels, Wormian bones, maxilla hypoplasia, mild osteopenia, slender long tubular bones, delayed epiphyseal ossification Initially neutropenia, hypogammaglobulinemia, reduced[pediatrics.aappublications.org]
  • Extrahepatic phenotype of NBAS mutation presents with the following: Short stature, osteopenia, dysmorphism, autoimmune disease, optic atrophy, brain atrophy, and delayed development. [4], [5], [6] The data of Haack et al. and Staufner et al. [1], [2][saudijgastro.com]
Severe Osteoporosis
  • [(Arg137Trp)];[(Arg137Trp)]NA ( )– ( 0.8 in 1 sibling)Large fontanels, bone fractures in the 2 eldest siblings, severe osteoporosis in the thirdNA––DDNormal in 2, mild cortico-subcortical atrophy and periventricular and superior cerebellar peduncles ([pediatrics.aappublications.org]
Short Neck
  • CASE REPORT: The patient is a 14 year old American male of mixed European ancestry with the following findings: • short stature • growth hormone deficiency • optic nerve atrophy, nystagmus • senile facies • white-blonde scalp hair • short neck • brachydactyly[epostersonline.com]
Short Neck
  • CASE REPORT: The patient is a 14 year old American male of mixed European ancestry with the following findings: • short stature • growth hormone deficiency • optic nerve atrophy, nystagmus • senile facies • white-blonde scalp hair • short neck • brachydactyly[epostersonline.com]
Large Fontanel
  • [(Arg137Trp)];[(Arg137Trp)]NA ( )– ( 0.8 in 1 sibling)Large fontanels, bone fractures in the 2 eldest siblings, severe osteoporosis in the thirdNA––DDNormal in 2, mild cortico-subcortical atrophy and periventricular and superior cerebellar peduncles ([pediatrics.aappublications.org]

Workup

  • Immunological workup including serum immunoglobulin, complement C3 and C4 functions, T cells subset, and B cell function were normal. Workup for autoimmune hepatitis was normal [Table 1].[saudijgastro.com]
Delayed Bone Age
  • bone age, calvarial defects, cone-shaped epiphyses of phalanges, partial pseudoepiphyses of first metacarpals, hypoplastic metacarpals, hypoplastic cervical vertebrae with suspected subluxation • recurrent infections: sepsis, pneumonia, otitis media,[epostersonline.com]
  • [(Arg1914His)];[(Arg1914His)]NA (mean -4.01)Brachycephalic skull with malar hypoplasia, delayed bone age in 14/33 patients, slender long bones g (and loss of color vision in most) NA–Slight cerebellar atrophy in 3, DW malformation in 1, cyst at internal[pediatrics.aappublications.org]
Erythrocytosis
  • ., Age of Arg200Trp mutation in the VHL gene, which leads to the development of autosomal recessive erythrocytosis in Chuvashia, Med. Genet., 2007, vol. 6, no. 9, pp. 31–36. Google Scholar 12.[link.springer.com]
  • , familial, 3 ( EGLN1) Erythrocytosis, familial, 4 ( EPAS1) Erythrokeratodermia variabilis et progressiva ( GJB3) Erythrokeratodermia variabilis with erythema gyratum repens ( GJB4) Escobar syndrome ( CHRNG) Esophageal cancer ( DLEC1) Esophageal squamous[en.praenatal-medizin.de]
  • Deafness 2 Familial Benign Hypercalcemia 2 Familial Cancer Of Breast 17 Familial Cold Autoinflammatory Syndrome 2 2 Familial Cold Urticaria 2 Familial Colorectal Cancer 3 Familial digital arthropathy with brachydactyly 1 Familial Dysautonomia 4 Familial Erythrocytosis[preventiongenetics.com]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • (Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. Patient 2: NBAS c.5741G A p.(Arg1914His); c.2032C T p.[eprints.whiterose.ac.uk]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.[web.expasy.org]

Prognosis

  • Our patient and the data of Staufner et al. [2] would suggest that NBAS mutation has a favorable prognosis. However, liver transplant was performed in one patient aged 3 years; no further crisis occurred after liver transplant.[saudijgastro.com]
  • Lymphocyte rich- best prognosis.[studystack.com]
  • Etiology and prognosis of acute liver failure in children. Liver Transpl. 2008;14(Suppl 2):80–4. View Article Google Scholar Squires RJ, Shneider BL, Bucuvalas J, Alonso E, Sokol RJ, Narkewicz MR, et al.[bmcgastroenterol.biomedcentral.com]

Etiology

  • Background Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency and in about 50 % the etiology remains unknown.[paperity.org]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Small-vacuole steatosis in liver, although not specific for ER stress, is consistent with that etiology.[bmcgastroenterol.biomedcentral.com]
  • Abstract Background Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency and in about 50 % the etiology remains unknown.[springermedizin.de]

Epidemiology

  • Several forms of pathologies, referred to as Yakut hereditary diseases, have been distinguished on the basis of the results of genetic epidemiological studies of Mendelian diseases in the population of the Republic of Sakha (Yakutia): spinocerebellar[m.oxfordmedicine.com]
  • Relevant External Links for NBAS Genetic Association Database (GAD) NBAS Human Genome Epidemiology (HuGE) Navigator NBAS Atlas of Genetics and Cytogenetics in Oncology and Haematology: NBAS No data available for Genatlas for NBAS Gene Structural analysis[genecards.org]
  • Some patients with HEM skeletal dysplasia have neutrophils with features of PHA, and some patients with PHA have mild skeletal anomalies. [6, 15, 16] Epidemiology Frequency United States The prevalence rate in the United States is estimated as 1 case[emedicine.medscape.com]
  • Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am. J. Med. Genet. 46, 486–491 (1993). 2. Van Camp, G. & Smith, R. J. H. Hereditary Hearing Loss Homepage, July–August 2010; . 3.[nature.com]
  • Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010).[centogene.com]
Sex distribution
Age distribution

Pathophysiology

  • […] disorder. [2] Distinguishing this benign autosomal dominant disorder from acquired or pseudo–Pelger-Huët anomaly, which can be observed in individuals with myeloid leukemia, myelodysplasia, and bi-lineage acute lymphocytic leukemia, is important. [3] Pathophysiology[emedicine.medscape.com]

Prevention

  • Identification of NBAS deficiency allows optimized therapy of liver crises and even prevention of further episodes. This is a preview of a remote PDF: Christian Staufner, Tobias B. Haack, Marlies G. Köpke, Beate K.[paperity.org]
  • Identification of NBAS deficiency allows optimized therapy of liver crises and even prevention of further episodes.[springermedizin.de]
  • […] deficiency is the first disease related to a primary defect of retrograde transport. [2] In each liver failure episode, our patient received early administration of antipyretics, intravenous antibiotics, and intravenous fluids with high glucose and lipids to prevent[saudijgastro.com]
  • […] complement deposition on host cells M protein Cell wall of strep, binds factor h to prevent opsonization and destruction by alternative complement pathway.[studystack.com]
  • That in NBAS disease raised body temperature itself might both mark and initiate a liver crisis has been suggested [ 14 ], with the corollary and experience that early and effective control of fever might prevent or alleviate liver crisis.[bmcgastroenterol.biomedcentral.com]

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