Dataset Information

Spine malformation complex in 3 diverse syndromic entities: Case reports.

ABSTRACT:

Rationale

Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity.

Patients concerns

Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes.

Diagnoses

We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A).

Interventions

Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively.

Outcomes

The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex.

Lesons

Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and

SUBMITTER: Kaissi AA

PROVIDER: S-EPMC5268028 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature

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Publications

Spine malformation complex in 3 diverse syndromic entities: Case reports.

Kaissi Ali Al AA van Egmond-Fröhlich Andreas A Ryabykh Sergey S Ochirov Polina P Kenis Vladimir V Hofstaetter Jochen G JG Grill Franz F Ganger Rudolf R Kircher Susanne Gerit SG

Medicine 20161201 50

<h4>Rationale</h4>Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity.<h4>Patients concerns</h4>Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiograp ...[more]

PMID: 27977582

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Project description:Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations. Patients and Methods: Different children aged from 1 month to 12 years were referred to our departments seeking orthopedic advice. Primarily, all received variable false diagnoses in other institutes. Two unrelated boys of one month and 12 months were falsely diagnosed as having positional plagiocephaly associated with contractures of idiopathic origin. Two unrelated boys of 14 months and 2 years were diagnosed with pseudo-hydrocephalus and non-specific syndrome, and were referred to explore their skeletal development. Two unrelated girls of 4 years old and 12 years old presented with multiple contractures were referred because of progressive scoliosis. A 4-year-old girl was referred with a false provisional diagnosis of facial diplegia. All children underwent detailed clinical, radiological and tomographic phenotypic characterizations and genetic testing, respectively. Results: Idaho syndrome (craniosynostosis associated with multiple dislocations) was the final diagnosis in the two unrelated boys with plagiocephaly and multiple contractures. Two children falsely diagnosed with pseudo-hydrocephalus and non-specific syndrome, were diagnosed with Silver-Russell syndrome (RSS). Contractural arachnodactyly Beals (CAB) was confirmed as the definitive diagnosis in the two unrelated girls with progressive scoliosis and multiple contractures. Parry-Romberg syndrome (PRS) associated with congenital lumbar kyphosis was the final diagnosis of the girl with the diagnosis of facial diplegia. Hypomethylation of ICR1 was confirmed in the RSS patients. Whole exome sequencing (WES) revealed a heterozygous mutation in the PRS patients. WES and array-CGH showed that no relevant variants or copy number variations (CNV) were identified in the CAB patients. Conclusions: On the one hand, newborn children can manifest diverse forms of abnormal craniofacial features, which are usually associated with either major or minor dysmorphic stigmata. A cleft lip/ palate is a major craniofacial malformation, and frontal bossing or a disproportionate craniofacial contour can be falsely considered as a transient plagiocephaly, which is spontaneously resolved by time. On the other hand, many physicians fall into the problem of deeming a countless number of diseases, such as contractures, as an idiopathic or non-specific syndrome. The latter stems from limited clinical experience. Therefore, failing to establish between the onset of the deformity and other inexplicit abnormal features that the patient or their immediate families or relatives carry is the final outcome. In this study, we used, for the first time, a reconstruction CT scan to further delineate the congenital disruption of the craniofacial anatomy and the other skeletal malformation complex.

Project description:IntroductionIntervertebral discs are part of the vertebral column and are considered the pads that help in cushioning and flexibility. These discs consist of nucleus pulposus, annulus fibrosus, and cartilage end plate and their major functions include spinal motion and loading. However, they are prone to numerous pathologies such as intradiscal hematoma and discal cyst formation that may significantly alter the biomechanics of the spine and hence the quality of life of the patient. This case report aims to shed light on these rare pathologies.Case presentationThe following is a report on two cases demonstrating the difficulties in managing patients with intradiscal hematoma and discal cysts. Both cases are non-traumatic. The first case includes a 23-year-old male patient with right-sided lumbosacral pain unresponsive to conservative measures diagnosed with intradiscal hematoma using MRI. The second case concerns a 21-year-old male with left lumbar cruralgia following a motor vehicle accident. Conservative management at the onset helped to give a short time relief and when it relapsed it led to the diagnosis of an extradural compressive cyst that called for surgery.DiscussionAn intradiscal hematoma provokes severe pain increasing with intraspinal pressure. Discal cysts, which are more frequent in young people, most likely manifest clinical signs of disc herniations. The pathophysiological theories may include the presence of hematomas or a gradual degenerative process due to mechanical stress. An MRI scan is essential for correct diagnosis and developing a proper treatment strategy for both diseases. The management of the condition includes medical treatment, physical therapy, injections, and surgical procedures for chronic cases.ConclusionThe diagnosis and management of intervertebral disc pathology is quite challenging. The first case presents the deficiency of minimizing conservative approach in the management of intradiscal hematomas while the second case demonstrates the propensity for symptom reappearance in discal cysts and therefore the effectiveness of surgical management. MRI and other forms of imaging are vital in the diagnosis of the disease and in planning treatment. Science has embarked on the exploration of the exact causes of these diseases to enhance the lives of patients and the efficiency of the management of such illnesses.

Project description:BackgroundReports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A variants are from affected individuals of Maghrebian origin, who all carry an identical nonsense variant. Here we report two novel variants in the TMEM126A gene from non-Maghreb individuals, both found in affected individuals with an arOA phenotype.Case presentationWe report three affected individuals from two families. The proband of family A, a 24-year-old Turkish woman, was diagnosed with visual loss in early childhood but a diagnosis of optic atrophy was only made at 14 years. A diagnostic gene panel revealed a splice donor variant (c.86 + 2 T > C) in homozygous state in the TMEM126A gene. Analysis of this variant based on RNA from whole blood revealed a single aberrant transcript lacking exon 2, presumably representing a functional null allele. Two siblings from family B, a 16-year old Iraqi girl and her 14-year old brother, were diagnosed with optic atrophy in early childhood. A missense variant p.(S36 L) in the TMEM126A gene was identified in homozygous state in a gene panel-based diagnostic setting in both siblings. This missense variant is ultra rare in the general population, affects a highly evolutionarily conserved amino acid and segregates with the disease within the family. The three probands reported in this study had a relatively mild clinical course without any evidence of a syndromic (e.g. neurological) comorbidity, which is in line with previous studies.ConclusionsWe provide additional evidence for the implication of biallelic pathogenic TMEM126A variants in arOA. Our findings extend both the mutational spectrum and geographic presence of TMEM126A in arOA. Screening of the entire gene should be considered in affected individuals presenting with features resembling arOA and also from non-Maghrebian descent.

Dataset Information

Spine malformation complex in 3 diverse syndromic entities: Case reports.

Rationale

Patients concerns

Diagnoses

Interventions

Outcomes

Lesons

Publications

Spine malformation complex in 3 diverse syndromic entities: Case reports.

Similar Datasets

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