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16 Years female resident of Kathmandu brought with presenting complains of
· excessive weight gain
· hirsutism
· severe acne
· with history of repeated fractures of limbs and episodes of generalized tonic clonic seizure
She was first product of non-consanguineous couple delivered via cesarean section due to non-progress of labour. There were unremarkable antenatal events but following delivery there was right clavicular fracture and managed conservatively. At the time of birth her sclera was bluish otherwise no any abnormalities.
Her overall growth and development during childhood was normal with timely reach of developmental milestones. She was immunized as per national immunization program at that time. During her preschool and school age she have repeated fractures of the limbs with trivial trauma which were managed conservatively.
With start of puberty she started to have increased appetite and significant weight gain.
At the age of fourteen she developed GTCS for the first time and after few months she developed second episode while being on evaluation then she in under sodium valproate.
Mean time she developed cushingoid appearance for which her cortisol level was tested which was higher than normal rhythmic cyclical pattern, but dexamethasone suppression test was negative and follow up 24 hours urinary cortisol and morning 8 am cortisol was normal.
Her CECT head, MRI brain and EEG were normal. While her ultrasound abdomen and pelvis revealed some cystic lesion of ovary.
Her physical examination revealed cushingoid appearance with severe acne, hirsutism and bluish sclera with short stature; otherwise there was normal examination including face, trunk, limb and genitalia.
Now she is under sodium valproate for seizure and vitamin D3 supplement for her fragile bony status.
Her morning 8:00hr cortisol was .84 microgram/dl (5.2-35), 4 pm ACTH ?
The diagnosis of her basic disease is Osteogenesis imperfect (OI) probably Type 2. The confirmation can be done by testing for mutations in the COL1A1 and COL1A2 genes (present in 90% of cases).
She also has polycystic ovarian disease secondary to obesity. Obesity is common in OI due to several factors (ref 1). She needs obesity reduction measures and cyclical estrogen therapy .
Seizures of unknown etiology may occur in OI and usually respond well to valproate (ref 2).
There is some suggestion that she received exogenous steroids (low cortisol and ACTH) that resulted in cushingoid appearance. Only a follow up cortisol and ACTH estimation after a few weeks to document a return to normal, may be required .
References
1. Zani A1, Ford-Adams M2, Ratcliff M3, Bevan D4, Inge TH3, Desai A5. Weight loss surgery improves quality of life in pediatric patients with osteogenesis imperfecta. Surg Obes Relat Dis. 2017;13(1):41-44.
2. Boughammoura-Bouatay A, Chebel S, Aissi M, Koubaa M, Frih-Ayed M. [Lobstein's disease presenting with seizures]. Rev Neurol (Paris). 2007 Sep;163(8-9):834-6.
@Devi Dayal thank you sir, Her ultrasound and Computed tomography scan of abdomen and pelvis is not in favor of PCOS but clinically features are suggestive of PCOS. Her 24 hour urinary cortisol was high and also plasma cortisol was high once but repeat reports were normal and the above report was following low dose dexamethsone suppression test as you correctly said (sorry i forget to mention that prior).
though her all features were not explained by Pradder willi, can it be PWS or not??
The phenotype matches some how more with PWS than in OI2 in OMIM entry
https://www.omim.org/search/?index=entry&start=1&limit=10&sort=score+desc%2C+prefix_sort+desc&search=seizure%2C+fracture%2C+obesity%2C+dwarfism%2C+oligomenorrhea
https://www.omim.org/entry/166210?search=asteogenesis%20imperfecta&highlight=asteogenesi%20imperfecta
Fractures in neonatal period and after trivial trauma, blue sclerae, short stature, and late onset of obesity, all point to OI. PWS has distinct facial features and onset of obesity during early childhood with characteristic hyperphagia.
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