scholarly journals A case of congenital glaucoma in type I neurofibromatosis

2021 ◽  
Vol 16 (3) ◽  
pp. 37-42
Author(s):  
A. V. Pleskova ◽  
K. V. Lugovkina ◽  
Anna Yu. Panova ◽  
A. A. Sorokin
Keyword(s):  
Clinical Course ◽  
Interdisciplinary Approach ◽  
Hereditary Disease ◽  
Pathological Process ◽  
Congenital Glaucoma ◽  
Benign Tumors ◽  
Type I ◽  
Ophthalmological Examination ◽  
Bone Changes ◽  
Eye Lesions

BACKGROUND: Recklinghausens generalized neurofibromatosis (NF) is a hereditary disease characterized by the formation of benign tumors from the nervous tissue that provokes skin and bone changes of various types. Often, involvement in the pathological process and the organ of vision. The variability of eye lesions in NF-I type is known according to the clinical course, severity, and clinical forms. Gliomas and atrophy of the optic nerves, neurofibromas in the iris, sclera, conjunctiva, eyelids, less often glaucoma, buphthalmos, orbital osteodystrophy are described. RESULTS: The article describes a rare case of type I neurofibromatosis, the first clinical manifestation of congenital glaucoma. Modern complex ophthalmological examination made it possible to identify the cause and clarify the nature of the development of glaucoma. CONCLUSION: The need for an interdisciplinary approach to the diagnosis, dispensary observation, and treatment of NF-I is emphasized.

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.

Glycogen storage disease type I a: Frequency and clinical course in Turkish children

2000 ◽  
Vol 67 (7) ◽  
pp. 497-501 ◽  
Author(s):  
Inci Nur Saltik ◽  
Hasan Özen ◽  
Gönenç Ciliv ◽  
Nurten Koçak ◽  
Aysel Yüce ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Clinical Course ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type I ◽  
Turkish Children

scholarly journals Clinical manifestations of familial exudative vitreoretinopathy in children with nucleotide sequence alterations in the FZD4 gene

2021 ◽  
Vol 14 (4) ◽  
pp. 52-59
Author(s):  
L. A. Katargina ◽  
V. V. Kadyshev ◽  
E. V. Denisova ◽  
E. A. Geraskina ◽  
A. V. Marakhonov ◽  
...  
Keyword(s):  
Nucleotide Sequence ◽  
Direct Sequencing ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Interdisciplinary Approach ◽  
Ophthalmological Examination ◽  
Photographic Recording ◽  
Familial Exudative Vitreoretinopathy ◽  
National Medical

Familial exudative vitreoretinopathy (FEVR)is a rare genetically heterogeneous disease with multiple types of inheritance (autosomal dominant, autosomal recessive, X-linked) and widely varying clinical features. Up to 40 % of cases of FEVR are associated with mutations of the FZD4 gene.Purpose: to investigate the clinical manifestations of FEVR in children with nucleotide sequence alterations in the FZD4 gene. Material and methods. The Helmholtz National Medical ResearchCenter of Eye Diseases and the ResearchCentre for MedicalGenetics conducted a joint in-depth ophthalmological examination of 18 patients aged from 3 weeks to 17 years with a diagnosis of FEVR, which included a detailed ophthalmoscopy under drug mydriasis, ultrasound and electrophysiological examination, photographic recording of fundus changes using RetCam and Fundus Foto. Molecular genetic examination was carried out by direct sequencing according to Sanger. Results. Nucleotide sequence alterations in the FZD4 gene were detected in 3 patients(16.7 %)from two unrelated families. In one family, a 12-year-old girl wasfound to display the firstsymptoms of ophthalmic pathology (reduced vision, strabismus) at the age of 3.5 years. In another family, the clinical manifestations of FZD4 gene mutations were observed in two children during the first year of life (at the age of 5 and 11 months).Conclusions. The clinical picture of 3 patients with detected changes in the nucleotide sequence of the FZD4 gene is characterized by early manifestation and bilateral asymmetric ophthalmoscopic damage. The results of the study indicate the need for a timely diagnosis of FEVR in young children, recommend an interdisciplinary approach to the study of the disease, which should contribute to a better understanding of pathogenesis, and the development of an effective diagnostic, treatment and rehabilitation algorithm.

scholarly journals AUTOPSY FEATURES AT THE ACUTE DESTRUCTIVE PANCREATITIS

2020 ◽  
Vol 28 (2) ◽  
pp. 48-54
Author(s):  
Al'fiya K. Imayeva ◽  
Tagir I. Mustafin
Keyword(s):  
Acute Pancreatitis ◽  
Transverse Colon ◽  
Infectious Agent ◽  
Pathological Process ◽  
Postmortem Examination ◽  
Retroperitoneal Space ◽  
Contrast Study ◽  
Type I ◽  
Type Iii ◽  
The Right

In all variants of the destructive form of pancreatitis, the involvement of adipose tissue of both para-pancreatic and distant localization was noted. In this case, it is necessary to improve the pathological diagnosis of acute destructive pancreatitis. The aim of the study was to develop new techniques for postmortem examination of those who died from complications of acute pancreatitis. Pathological studies were supplemented by the methods proposed by the authors, which made it possible to clarify the spread of the infectious agent through the retroperitoneal tissue. The scheme proposed by the authors for recording changes in the tissue of the pancreas and surrounding tissues after a contrast study made it possible to clarify the main ways of propagation of the purulent-necrotic process along the retroperitoneal tissue. The results of postmortem examination of 67 deaths from complications of acute pancreatitis are presented. Based on the study, 5 types of acute destructive pancreatitis were identified. In type I, the pathological process involves the right half of the retroperitoneal tissue, including the mesentery root of the small intestine, the para-pancreatic region, the right para-kidney and sub-hepatic space. The second type is characterized by the presence of inflammatory and destructive changes in the fiber of the right lateral canal, the actual retroperitoneal space on the right and the mesentery root of the transverse colon. Purulent-necrotic changes in para-pancreatic, left perineal tissue, mesentery of the transverse colon, also in peritoneum were typical for type III acute destructive pancreatitis. For type IV disease, in addition to areas of involvement as in type III, involvement of the pelvic tissue and the left sections of the retroperitoneal space itself were noted. The spread of the infectious agent to both the right and left parts of the retroperitoneal tissue was defined as type V acute destructive pancreatitis.

scholarly journals Mucopolysaccharidosis type I - Clinical and genetic characteristics of Romanian patients

2020 ◽  
Vol 28 (3) ◽  
pp. 279-286
Author(s):  
Camelia Alkhzouz ◽  
Cecilia Lazea ◽  
Diana Miclea ◽  
Carmen Asavoaie ◽  
Ioana Nascu ◽  
...  
Keyword(s):  
Severe Form ◽  
The Other ◽  
Compound Heterozygous ◽  
Type I ◽  
Ophthalmological Examination ◽  
Mucopolysaccharidosis Type ◽  
Hurler Syndrome ◽  
Mucopolysaccharidosis Type I ◽  
Genetic Characteristics ◽  
Mps I

AbstractBackground: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of α-L-iduronidase (IDUA), which leads to the accumulation of partially digested glycosaminoglycans (dermatan sulfate and heparan sulfate) in the lysosomes and induces multisystemic alteration. Hurler (severe), Scheie (mild), and Hurler/Scheie (intermediate) syndromes are clinical subtypes of MPS-I. To date, more than 290 IDUA mutations have been reported. The purpose of this study was to present the clinical and genetic characteristics of Romanian MPS I syndrome patients and their genotype-phenotype correlation.Patients and methods: Seven patients (5 girls and 2 boys) with MPS type I, belonging to 4 unrelated families, aged 0,75-17.9 years, were enrolled. The study methods consisted in: clinical and standard auxological assessment, bone radiographs, joint ultrasonography, goniometry, neurological and psychological evaluation, hepatic and splenic ultrasonography, cardiological evaluation, otorhinolaryngology examination, ophthalmological examination, spirometry, α-L-iduronidase enzyme activity assay and molecular analysis.Results: The seven patients originated from 4 unrelated families, three patients with severe, two patients with intermediate and two with attenuated clinical phenotype. Each patient presented the classical picture of MPS type I picture, represented by: variable coarse facial features, arthropathy, hepatosplenomegaly, cardiac involvement, respiratory dysfunction and neurological impairment. Five patological variants, three point mutations (p.Q70 *, p.I238Q and p.K324R), two deletion c.1045_1047delGAC, c.46_57delTCGCTCCTG) and an insertion (c.1389 insC) were identified in both alleles of the ADUA gene in homozygous or heterozygous form. Two novel mutations (p.K324R and c.1389 insC) were reported. The p.Q70*(c.208C>T) variant was identified in 2 families with severe form of disease (Hurler syndrome) in homozygous status in one family and in compound heterozygous status in the other family.Conclusion: The p.Q70* missense variant was the most frequent, correlated in all the cases who presented it with severe form, Hurler syndrome, the other mutations being usually isolated and particular for each patient, associated in our patients with less severe MPS I phenotype, as Hurler-Scheie or Scheie syndrome. The results of this study indicated the mutational heterogeneity of the IDUA gene and the difficulty to indicate some correlation between the genotype and phenotype in MPS I patients.

Racjonalne przesłanki do wyłączenia nerwiakowłókniakowatości z rodziny RASopatii i fakomatoz – podstawy projektu zarządzania chorobą w ramach koordynowanej opieki medycznej

2019 ◽  
Vol 23 (1) ◽  
Author(s):  
Marek W. Karwacki
Keyword(s):  
Rare Diseases ◽  
Clinical Course ◽  
Benign Tumors ◽  
Disease Course ◽  
Small Children ◽  
Monogenic Disorders ◽  
Café Au Lait Spots ◽  
Legius Syndrome ◽  
Risk Of Malignancy ◽  
The Subject

Term neurofibromatoses (NF) comprises three distinct medical entities of different clinical course with overlapping symptomatology and different molecular pathology. NF-1 and its allelic and mosaic forms is one of the most frequent monogenic disorders and together with Legius syndrome belongs to RASopathies. Remaining two, NF-2 and schwannomatosis (NF-3), are ultra-rare diseases and do not belong to RASopathies. Symptomatology, diagnostic and therapeutic requirements as well as complications of NF course are so different from those observed in other RASopathies and phacomatoses, that neurofibromatoses should constitute a separate classification group with distinct program of care. The crucial argument behind this thesis is that NFs are primary neoplasia syndromes, as benign tumors arise in all patients lifelong and a risk of malignancy significantly exceed populational risk in NF patients. Primary diagnostic problems, especially in small children with multiple cafè-au-lait spots required differentiation among almost 80 clinical entities, divers tumors and potential malignancies, varied multiorgan oncological and non-oncological complications of disease course, warrant not only complex multi-specialty consultations and comprehensive supervision, but the coordinated medical care in general. Proofs confirming title’s thesis are the subject of this article.

A Case of Multiple Endocrine Neoplasia Type I with Atypical Clinical Course

2008 ◽  
Vol 23 (4) ◽  
pp. 266 ◽  
Author(s):  
Yun Sun Choi ◽  
Youn Sun Bai ◽  
Bon Jeong Ku ◽  
Young Suk Jo ◽  
Young Kun Kim ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Clinical Course ◽  
Type I ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Heberden's nodes: concordant osteoarthritis of the fingers in identical twins

1954 ◽  
Vol 3 (1) ◽  
pp. 84-92
Author(s):  
Robert M. Stecher
Keyword(s):  
Hereditary Disease ◽  
Blood Groups ◽  
Identical Twins ◽  
Apparent Absence ◽  
Eye Color ◽  
Finger Joints ◽  
Bone Changes

SummaryHeberden's nodes or osteoarthritis of the finger joints are described in two identical twins. The appearance of the hands and the bone changes in individual joints as shown by radiographs are remarkably alike. That the twins are identical is indicated by agreement of eye color, hair on the fingers, tasting of phenylthiocarbamide and of 8 blood groups. Evidence of a tendency to mirror imaging in the distribution of the disease among the fingers is seen.Osteoarthritis of the fingers occurs in these cases in the apparent absence of manifestations of osteoarthritis in other joints. Heberden's nodes is an hereditary disease but this seems to be the first description published of its occurrence in twins.

Small respiratory passages dysfunction in bronchial asthma

2020 ◽  
Vol 29 (6) ◽  
pp. 725-733
Author(s):  
O. Yu. Kytikova ◽  
M. V. Antonyuk ◽  
B. I. Gel'tser ◽  
E. E. Mineeva ◽  
T. A. Gvozdenko
Keyword(s):  
Comparative Study ◽  
Disease Control ◽  
Bronchial Asthma ◽  
Scientific Knowledge ◽  
Clinical Course ◽  
Pathological Process ◽  
Modern Methods ◽  
The Comparative Study ◽  
The Impact ◽  
Timely Treatment

The small respiratory passages dysfunction (SRPD) is found in the vast majority of patients with bronchial asthma (BA). The SRPD is currently recognized as the important pathogenetic feature of BA. The purpose of this review is to analyze the current scientific knowledge about the poorly studied aspects of the small respiratory passages (SRR) participation in the development of pathological process in BA, as well as the impact of small bronchial dysfunction on the clinical course, the exacerbation frequency and the disease control. The importance of SRPD diagnostics in BA patients for optimal and timely treatment is discussed. The modern methods of RPD pathology diagnostics are described; their informative use in the comparative study aspect is considered.

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