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American Journal of Medical Genetics.... Mar 2015Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint... (Review)
Review
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes.
Topics: Abnormalities, Multiple; Arteries; Connective Tissue Diseases; Diagnosis, Differential; Ehlers-Danlos Syndrome; Humans; Joint Instability; Loeys-Dietz Syndrome; Marfan Syndrome; Meningocele; Osteogenesis Imperfecta; Skin Abnormalities; Skin Diseases, Genetic; Surveys and Questionnaires; Vascular Malformations
PubMed: 25821090
DOI: 10.1002/ajmg.c.31429 -
Child's Nervous System : ChNS :... Aug 2020Tourniquet syndrome is a rare condition where a tourniquet applied to an appendage leads to an obstructed blood flow and subsequent ischemic injury. Meningomyelocele and...
Tourniquet syndrome is a rare condition where a tourniquet applied to an appendage leads to an obstructed blood flow and subsequent ischemic injury. Meningomyelocele and meningocele are common birth defects, and involvement of meningocele in tourniquet syndrome is never mentioned in the literature. We managed a 10-day-old male child presenting with infected lumber meningocele with a tourniquet tied at its base. It is being presented with review of relevant literature.
Topics: Child; Humans; Male; Meningocele; Meningomyelocele; Neural Tube Defects; Spinal Dysraphism; Tourniquets
PubMed: 32172393
DOI: 10.1007/s00381-020-04557-y -
Neurology India 2020
Topics: Child; Child, Preschool; Encephalocele; Failure to Thrive; Humans; Infant; Infant, Newborn; Intellectual Disability; Meningocele; Neurosurgical Procedures; Scalp; Skull
PubMed: 32129233
DOI: 10.4103/0028-3886.279713 -
The Pan African Medical Journal 2022
Topics: Anal Canal; Digestive System Abnormalities; Humans; Magnetic Resonance Imaging; Meningocele; Rectum; Sacrum; Syringomyelia
PubMed: 35519164
DOI: 10.11604/pamj.2022.41.143.33419 -
Ophthalmic Plastic and Reconstructive...Congenital optic nerve cystic-like malformations associated with normally developed globes are extremely rare. We describe 3 children who presented since birth with...
Congenital optic nerve cystic-like malformations associated with normally developed globes are extremely rare. We describe 3 children who presented since birth with proptosis, and eye motility limitation. MRI showed in all cases that the intraorbital segment of the optic nerves was malformed with large cystic-like lesions in the intraconal segment of the orbit. In all cases, biopsies of the wall of the lesions were positive for glial fibrillary acidic protein. Since this protein is a neurobiomarker that exists only in astrocytes in the central nervous system, nonmyelinating Schwann cells of peripheral nerves, and enteric glial cells, we believe that these lesions represent true opticmeningoceles.
Topics: Astrocytes; Child; Exophthalmos; Glial Fibrillary Acidic Protein; Humans; Meningocele; Neuroglia; Optic Nerve; Schwann Cells
PubMed: 33229952
DOI: 10.1097/IOP.0000000000001864 -
The Veterinary Clinics of North... Mar 2016Spina bifida with or without meningocele or meningomyelocele is encountered infrequently in small animal practice. The English bulldog and Manx cat are breeds... (Review)
Review
Spina bifida with or without meningocele or meningomyelocele is encountered infrequently in small animal practice. The English bulldog and Manx cat are breeds predisposed. Although often silent clinically, in those animals with clinical signs, it is important to recognize the signs early and to understand the appropriate imaging modalities employed in establishing a diagnosis. In a select population of affected animals, proposed surgical intervention may be considered to prevent neurologic decline, prevent secondary complications, and potentially improve outcomes.
Topics: Animals; Cat Diseases; Cats; Central Nervous System; Dog Diseases; Dogs; Magnetic Resonance Imaging; Meningocele; Meningomyelocele; Neural Tube Defects; Spinal Dysraphism
PubMed: 26725976
DOI: 10.1016/j.cvsm.2015.10.007 -
SAGE Open Medical Case Reports 2022The occipital bone is an uncommon location for meningoceles protrusion. This condition occurs generally after a severe traumatism or surgical procedure. However, in some...
The occipital bone is an uncommon location for meningoceles protrusion. This condition occurs generally after a severe traumatism or surgical procedure. However, in some rare cases, the herniation can happen spontaneously. Nontraumatic clival meningoceles present an extremely rare entity and correspond to a herniating pachymeningeal collection containing cerebrospinal fluid through a zone of fragility in the clivus. Clinical presentation ranges from simple headache or rhinorrhea to severe complications such as recurrent bacterial meningitis or nerve compression. Computed tomography provides an analysis of the bone and magnetic resonance imaging provides a superior contrast resolution, helping to distinguish among the various types of clival lesions. We report the case of a young woman with a long history of idiopathic intracranial hypertension, who presented with a worsening headache. Magnetic resonance imaging confirmed a clival meningocele without other complications and the patient was put under medical surveillance.
PubMed: 35966125
DOI: 10.1177/2050313X221117334 -
Histopathology Jan 2023Cysts of the retrorectal space comprise a heterogeneous group of rare lesions. Most develop from embryological remnants and include tailgut cysts, dermoid cysts, rectal... (Review)
Review
Cysts of the retrorectal space comprise a heterogeneous group of rare lesions. Most develop from embryological remnants and include tailgut cysts, dermoid cysts, rectal duplication cysts, anal canal duplication cysts, sacrococcygeal teratomas and anterior meningocoele. Tailgut cyst is the most common cyst of developmental origin, usually presenting as a multilocular cystic mass with mucoid content and lined by multiple epithelial types. Compared with tailgut cysts, rectal duplication cysts display all layers of the large bowel wall including a well-defined muscularis propria. Retrorectal cysts of non-developmental origin are far less common and represent lesions that either infrequently involve the retrorectal space or undergo extensive cystic change. This review provides an overview of the various histological types of cystic lesions of the retrorectal space, divided into cysts of developmental origin and those of non-developmental origin. A practical pathological and multidisciplinary approach to diagnosing these lesions is presented.
Topics: Humans; Cysts; Adenocarcinoma; Rectum; Rectal Neoplasms
PubMed: 35962741
DOI: 10.1111/his.14769