scholarly journals Hydrocephalus-blue sclerae-nephropathy syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Blue Sclerae

Blue Sclerae: A Sign of Iron Deficiency Anemia in Children?

PEDIATRICS ◽  
1993 ◽  
Vol 91 (6) ◽  
pp. 1195-1196
Author(s):  
MAURICE BEGHETTI ◽  
BERNADETTE MERMILLOD ◽  
DANIEL S. HALPERIN
Keyword(s):  
Iron Deficiency ◽  
Clinical Sign ◽  
Iron Deficiency Anemia ◽  
Pediatric Population ◽  
Ethics Committee ◽  
Deficiency Anemia ◽  
Hospitalized Children ◽  
Industrialized Countries ◽  
Developmental Impairment ◽  
Blue Sclerae

An association between blue sclerae and iron deficiency anemia (IDA) was described in 1908 by W. Osler1 and confirmed recently in adults.2 In these studies, blue sclerae appeared more sensitive and equally specific as an indicator of IDA than mucosal pallor.4 Because IDA is common in young children even in industrialized countries, and since infants with IDA may be at risk for long-lasting developmental impairment,9-11 we carried out a survey to verify the validity of this association and to assess the value of this clinical sign in a pediatric population. SUBJECTS AND METHODS One hundred hospitalized children (median age 3.3 years, range 2 months to 17 years) were prospectively studied in accordance with the ethics committee of our institution.

scholarly journals The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Xiaolin Ni ◽  
Chenxi Jin ◽  
Yan Jiang ◽  
Ou Wang ◽  
Mei Li ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Clinical Manifestations ◽  
Joint Hypermobility ◽  
Minor Trauma ◽  
X Rays ◽  
Ehlers Danlos Syndrome ◽  
Chinese Origin ◽  
First Case ◽  
Blue Sclerae ◽  
Danlos Syndrome

Abstract Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as the pathogenic cause of kEDS (kEDS-PLOD1). Up to now, kEDS-PLOD1 has not been reported among Chinese population. Case presentation A 17-year-old Chinese male patient presenting with hypotonia, joint hypermobility and scoliosis was referred to our hospital. After birth, he was found to have severe hypotonia leading to delayed motor development. Subsequently, joint hypermobility, kyphoscoliosis and amblyopia were found. Inguinal hernia was found at age 5 years and closed by surgery. At the same time, he presented with hyperextensible and bruisable velvety skin with widened atrophic scarring after minor trauma. Dislocation of elbow joint was noted at age of 6 years. Orthopedic surgery for correction of kyphoscoliosis was performed at age 10 years. His family history was unremarkable. Physical examination revealed elevated blood pressure. Slight facial dysmorphologies including high palate, epicanthal folds, and down-slanting palpebral fissures were found. He also had blue sclerae with normal hearing. X-rays revealed severe degree of scoliosis and osteopenia. The Echocardiography findings were normal. Laboratory examination revealed a slightly elevated bone turnover. Based on the clinical manifestations presented by our patient, kEDS was suspected. Genetic analysis revealed a novel homozygous missense mutation of PLOD1 (c.1697 G > A, p.C566Y), confirming the diagnosis of kEDS-PLOD1. The patient was treated with alfacalcidol and nifedipine. Improved physical strength and normal blood pressure were reported after 12-month follow-up. Conclusions This is the first case of kEDS-PLOD1 of Chinese origin. We identified one novel mutation of PLOD1, extending the mutation spectrum of PLOD1. Diagnosis of kEDS-PLOD1 should be considered in patients with congenital hypotonia, progressive kyphoscoliosis, joint hypermobility, and skin hyperextensibility and confirmed by mutation analysis of PLOD1.

Polymeric Collagen of Skin in Normal Subjects and in Patients with Inherited Connective Tissue Disorders

1973 ◽  
Vol 44 (5) ◽  
pp. 429-438 ◽  
Author(s):  
M. J. O. Francis ◽  
R. Smith ◽  
D. C. Macmillan
Keyword(s):  
Connective Tissue ◽  
Pseudoxanthoma Elasticum ◽  
Normal Subjects ◽  
Preliminary Evidence ◽  
Connective Tissue Disorders ◽  
Myositis Ossificans Progressiva ◽  
Normal Colour ◽  
The Stability ◽  
Blue Sclerae

1. The major collagen fraction of skin, which in vivo consists of tropocollagen molecules aggregated into extracellular fibres, has been extracted from forty-nine normal subjects and nineteen patients with inherited and acquired disorders of connective tissue. 2. In normal subjects the chemical stability of this fraction progressively increased up to the age of 60. 3. This fraction was less stable than normal in patients with homocystinuria, Werner's syndrome, myositis ossificans progressiva, pseudoxanthoma elasticum, juvenile osteoporosis and acromegaly. 4. In osteogenesis imperfecta (OI) the stability of this fraction was normal in those patients with markedly blue sclerae, although the amount which could be extracted from the skin was low: opposite results were found in those OI patients with sclerae of normal colour. 5. This study provides preliminary evidence of collagen abnormality in several heritable disorders of connective tissue.

Blue Sclerae in Osteogenesis Imperfecta

1998 ◽  
Vol 339 (14) ◽  
pp. 966-966 ◽  
Author(s):  
Gudrun Leidig-Bruckner ◽  
Andreas Grauer
Keyword(s):  
Osteogenesis Imperfecta ◽  
Blue Sclerae

scholarly journals Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta

2013 ◽  
Vol 2013 ◽  
Author(s):  
S A S Aftab ◽  
N Reddy ◽  
N L Owen ◽  
R Pollitt ◽  
A Harte ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Health Care Professionals ◽  
Stop Codon ◽  
Connective Tissue Disorder ◽  
Heterozygous Mutation ◽  
Team Approach ◽  
List Type ◽  
Gene Coding ◽  
Metabolic Bone ◽  
Blue Sclerae

Summary A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall. She had the classical blue sclerae, and dual energy X-ray absorptiometry (DEXA) bone scanning confirmed low bone mass for her age in the lumbar spine (Z-score was −2.6). However, despite these classical clinical features, the diagnosis of OI had not been entertained throughout the whole of her childhood. Sequencing of her genomic DNA revealed that she was heterozygous for the c.3880_3883dup mutation in exon 50 of the COL1A1 gene. This mutation is predicted to result in a frameshift at p.Thr1295, and truncating stop codon 3 amino acids downstream. To our knowledge, this mutation has not previously been reported in OI. Learning points OI is a rare but important genetic metabolic bone and connective tissue disorder that manifests a diverse clinical phenotype that includes recurrent low-impact fractures. Most mutations that underlie OI occur within exon 50 of the COL1A1 gene (coding for protein constituents of type 1 pro-collagen). The diagnosis of OI is easily missed in its mild form. Early diagnosis is important, and there is a need for improved awareness of OI among health care professionals. OI is a diagnosis of exclusion, although the key diagnostic criterion is through genetic testing for mutations within the COL1A1 gene. Effective management of OI should be instituted through a multidisciplinary team approach that includes a bone specialist (usually an endocrinologist or rheumatologist), a geneticist, an audiometrist and a genetic counsellor. Physiotherapy and orthopaedic surgery may also be required.

scholarly journals Fatigue in adults with Osteogenesis Imperfecta

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Arjan G. J. Harsevoort ◽  
Koert Gooijer ◽  
Fleur S. van Dijk ◽  
Daniëlle A. F. M. van der Grijn ◽  
Anton A. M. Franken ◽  
...  
Keyword(s):  
Quality Of Life ◽  
The Netherlands ◽  
Osteogenesis Imperfecta ◽  
Functional Ability ◽  
Normal Population ◽  
Bone Fragility ◽  
Mobile Phone Application ◽  
The Mean ◽  
Blue Sclerae

Abstract Background Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability. The aim of this study is to investigate whether adults with Osteogenesis Imperfecta are significantly more fatigued than the normal population. Methods The Fatigue Severity Scale (FSS) was distributed by mobile phone application among 151 adult patients with different OI types. Results of the FSS in the OI group were compared with two control populations from America (n = 20) and the Netherlands (n = 113). Results Ninety-nine patients (OI type 1 (n = 72), OI type 3 (n = 13), OI type 4 (n = 14) completed the FSS questionnaire. The mean FSS score of this cohort was 4.4 and significantly higher than the control populations (2.3/2.9). 65% of our cohort reported at least moderate fatigue compared with 2 control populations from America and the Netherlands. Conclusion Fatigue in patients with OI is a frequently encountered problem in our expert clinic but research into this topic is sparse. This pilot study is the largest study to date investigating fatigue in patients with OI and results have been compared with two control groups. The mean FSS score of 4.4 in the OI group indicates that people with OI are generally significantly more fatigued than the control population. Further evaluation of fatigue and its influencers in a larger group of OI patients is important for future management.

BLUE SCLERAE: A COMMON SIGN OF IRON DEFICIENCY?

The Lancet ◽  
1986 ◽  
Vol 328 (8518) ◽  
pp. 1267-1269 ◽  
Author(s):  
L KALRA
Keyword(s):  
Iron Deficiency ◽  
Common Sign ◽  
Blue Sclerae

Decreased scattering coefficient of blue sclerae

2008 ◽  
Vol 27 (2) ◽  
pp. 187-190 ◽  
Author(s):  
Peter J. H. Lanting ◽  
Peter C. F. Borsboom ◽  
Gerard J. te Meerman ◽  
Leo P. ten Kate
Keyword(s):  
Scattering Coefficient ◽  
Blue Sclerae

Natural history of blue sclerae in osteogenesis imperfecta

1993 ◽  
Vol 45 (2) ◽  
pp. 183-186 ◽  
Author(s):  
D. Sillence ◽  
B. Butler ◽  
M. Latham ◽  
K. Barlow
Keyword(s):  
Natural History ◽  
Osteogenesis Imperfecta ◽  
History Of ◽  
Blue Sclerae

BLUE SCLERAE AND IRON DEFICIENCY IN GENERAL PRACTICE

The Lancet ◽  
1987 ◽  
Vol 329 (8528) ◽  
pp. 335 ◽  
Author(s):  
L. Kalra ◽  
A. Treloar ◽  
R. Price ◽  
B.J.M. Jones
Keyword(s):  
General Practice ◽  
Iron Deficiency ◽  
Blue Sclerae
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