Cockayne syndrome – A case report
Journal Title: Indian Journal of Case Reports - Year 2018, Vol 4, Issue 2
Abstract
Cockayne syndrome (CS) is a rare multisystem disorder, with autosomal recessive inheritance. It belongs to the family of nucleotide excision repair diseases with clinical features of failure to thrive, neurodevelopmental delay, cutaneous photosensitivity, pigmentary retinopathy, neurosensory hearing loss, dental caries, premature ageing (progeria), and cachectic dwarfism with associated changes in the brain parenchyma. The imaging findings of the brain along with clinical features are helpful in the diagnosis of CS. There is no permanent treatment option for this condition and death usually occurs due to functional disability/infection by the end of the 3rd decade. We would like to highlight the imaging profile (computed tomography and magnetic resonance imaging findings) of this rare syndrome.
Authors and Affiliations
Prabakaran Palanisamy, Arun Santosh Pullbhotla, Harshavardhana Kurubara Manjaneyadu, Phani Chakarvarty Mutnuru
Keywords
Related Articles
- EP ID EP499049
- DOI -
- Views 120
- Downloads 0
Heteropagus conjoined twin - magnetic resonance imaging finding and its importance
-
Spontaneous urinary bladder perforation as a cause of recurrent, progressive ascites with multiorgan dysfunction syndrome
Spontaneous rupture of the urinary bladder wall is a rare complication that may lead to intraperitoneal accumulation of urine and is mistaken for ascites from other causes. This often leads to repeated and inconclusive d...
Hereditary hypotrichosis simplex of the scalp: A case report with 10 affected members in a family
Hereditary hypotrichosis simplex of the scalp is an autosomal dominant disorder, characterized by sparse or absent scalp hairs without structural defects, in the absence of other ectodermal or systemic abnormalities. Hai...
Transient facial nerve palsy after scalp block for awake craniotomy: A case report
Awake craniotomy is a unique clinical setting that needs anesthesiologist to provide variable states of sedation and analgesia to ensure optimal operating conditions without compromising patient safety. Scalp block is an...
Benign schwannoma of the abdominal wall: A rare case report and a review of literature
Tumors of the peripheral nerve sheath (neurilemmomas or schwannomas) are uncommon, affecting approximately 5% of adults. The incidence of such a tumour over the abdominal wall is extremely rare. They are mostly benign an...