Atypical Stone Man Syndrome: Case Report and Literature Review
Journal Title: Journal of Medical Science And clinical Research - Year 2015, Vol 3, Issue 7
Abstract
Stone man syndrome (SMS) prominently known as Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder of progressive heterotopic ossification leading to severe restriction of mobility. The misdiagnosis and mismanagement rate of FOP is quite high. Atypical presentations of FOP are even more difficult to diagnose and ultimately end up in lifelong disabilities owing to iatrogenic injury. We present a case of a 10 year old girl who came with complaints of deformity of spine and multiple swellings over the back noted since 1 year with no history of preceding trauma or illness. On examination multiple bony hard swellings of variable sizes on the back with right sided mid-dorsal scoliosis exaggerated on forward bending were noted. Skeletal survey revealed fusion of lower cervical spinous process, hallux valgus deformity in the left foot, bilateral short and broad femoral neck and pseudo-exostosis over the distal femur and proximal tibia. Sequencing of the ACVR1gene revealed p.R206H mutation associated with FOP. Confirmation of the diagnosis by genetic analysis has averted the possibility of misdiagnosis and mismanagement in this atypical presentation of SMS/FOP. Insights into the variable phenotypic expressivity of FOP may pave the way for more effective therapeutic interventions for FOP in the future.
Authors and Affiliations
Dr. Maheshwar Lakkireddy
Keywords
Related Articles
- EP ID EP209107
- DOI -
- Views 64
- Downloads 0
Unilateral Pulmonary Hypoplasia In An Asymptomatic Adult
A case of Unilateral hypoplasia lung in a 24 years old male is presented here who was referred to our hospital by his primary care provider with an abnormal chest x-ray and on further investigation with computed tomograp...
Torsion of Ovarian Dermoid Cyst with MRKH Syndrome - A Rare Presentation
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a...
A Clinical Study on Glycemic Profile of Non Diabetic Individual with Acute Ischemic Stroke and Its Short Term Prognostic Significance
The association between the diabetes mellitus and its macrovascular complications like stroke had studied in many aspects before. In addition to being the risk factor for the cause of the stroke, it affects the prognosis...
Thyroid Functional Status in Relation to Hyperglycemia, Body Mass Index in Type-2 Diabetes Mellitus
Type-2 diabetics are more prone to develop thyroid disorders. Both are interlinked with each other. A study was conducted on type-2 diabetics without any complications. It was observed that hyperglycemia is closely relat...
A Prospective Study of Incidence and Outcome of Acute Kidney Injury Patients Admitted in Medical ICU of Tertiary Care Center
Background: Acute Kidney Injury (AKI) is characterized by a rapid decline in glomerular filtration rate over hours to days. Before 2004 there more than 35 definitions in medical literature for AKI, so a wide range of inc...