Dr. Venumadhav, Dr.Suchitra Sivadas, DJayakumar
Aims Kochi
10 year old female presented with complaints of cough and
lobulated swellings in periorbital area, neck and left shoulder
with restriction of movements. Child was investigated at her
primary care hospital itself. Swellings reduced in size over
next 2-3 weeks but became more firm to hard. As X-ray chest
and Usg chest showed evidence of pleural effusion , Pleural
fluid analysis was done that showed Exudative fluid with
lymphocytic predominance.
New swellings were noticed over the site of tapping on the
right side.
On examination firm, hardened, lobulated swellings were
noticed over Lt side of neck, left shoulder and right side of
chest(where tapping was done). In addition to this she had
Hallux valgus deformity and limb length discrepancy.
Labs showed mildly elevated inflammatory markers.
Differentials were Angioedema, TB, Chylothorax and
migratory Lymphadenitis.
pictures showing hallux valgus deformity with single phalanx of great toe, Enlargement of
left sternocleidomastoid muscle
USG neck done revealed swellings primarily in the cutaneous
and intermuscular plane.
MRI done showed showing soft tissue and muscular edema
showing high signal intensity on T2 weighted images.
Based on clinical and radiological findings,
A possibility of Fibrodysplasia ossificans progressiva was
considerd. Genetic consultation was availed and WES was
sent.
In Fibro dysplasia ossificans before ossification, congenital deformities such as malformed great toes or hallux valgus are the earliest clinical manifestation that refer the patient to make a genetic analysis. However, great toe malformations are pathognomonic and do not occur in all patients.Other anomalies, such as a broad, short femoral neck, clinodactyly, thumb malformations, kidney stones, inverted nipples, cervical spine fusions, and conductive hearing impairment, can also be observed .The diaphragm, tongue, and extraocular, cardiac, and smooth muscles are spared
She was treated with Steroids (Iv for first 3 days followed
oral steroids @1mg/kg/day ) and Bisphosphonates(
1mg/kg/body wt/ day for 3 days ) during the flare. Acute
flare has been improved. Definitive diagnosis confirmed
WES showing ACVR1 gene mutation.
Counselling:
As the disease is triggered trauma, BIOPSY has been
deferred.
Counselling has been given to the family
1) To avoid invasive procedures, IM injections, Dental
procedures, heavy weight bearing
2) As these children are prone for recurrent LRTI and
restrictive lung diseases in future, yearly Influenzae and
pneumococcal vaccines were recommended(To be given
subcutaneously).
Fibrodysplasia Ossificans Progressiva (FOP) is a rare
mesodermal disorder characterized heterotopic ossification
in soft tissues, leading to severe skeletal deformities and
functional limitations. It often begins in childhood, triggered
trauma or illness, and is caused an ACVR1 gene
mutation
Carry home message- Early diagnosis and swift intervention
are pivotal in rare conditions like Fibrodysplasia Ossificans avoiding invasive
procedures and trauma and thus slowing disease progression