DR.B.Shobika,DrSheela Namppothiri DR.C.Jayakumar,Dr.Praveena,AIMS KOCHI
One year old male child presented to ER with complaints of low Grade intermittent fever of 12 days.
No pointer superiors suggestive of involvement of systems and fever improved 5 days after admission and a diagnosis of viral fever was made
Vitals were stable and PICCLE normal. At time of admission,child was sick looking and febrile.
But salient finding in the head to foot examination was the dysmorphic features
Clinical examination revealed dysmorphic features like obese,long face,hypertelorism,10 teeth,large hands and feet,pointed chin,horizontal crease over chin.
Anthropometric measures showed weight-13kg(above97th centile);
height-83cm(above97th gentile);
head circumference ‘-48cm(between 85th and 97th centile).
Labs done were normal ;
Peripheral smear showed microcytic hypochromic anemia and Mentzer index -13.64 and leucocytosis.
In view of dysmorphic features and overweight the child was evaluated further.
X ray pelvis-normal
X ray wrist for bone Age-normal.
Genetic consultation sought in view of dysmorphic features and overweight which is suggestive of OVERGROWTH SYNDROME/WEAVER SYNDROME.
Parents have been counselled in detail regarding the child’s condition and the need for regular follow up.
Child is now under regular follow up of genetics.
WEAVER SYNDROME:
Other names:
Weaver Smith syndrome (wss)
Camptodactyly overgrowth unusual facies
Inheritance:
Autosomal dominant
Cause:
Mutations in EZH2 gene on chromosome 7q36
Signs and symptoms:
Macrocephaly,large bifrontal diameter,flattened occiput,long philtrum,retrognathia,large ears,strabismus,hypertelorism, loose skin,prominent chin crease.
Differential diagnosis: Sotos syndrome
Treatment:
No cure available
Multi disciplinary mangement: neurological,genetic counseling
Surgical correction: if any skeletal issues
Speech therapy:speech related problems
Physical occupational therapy:to help muscle tone
Prognosis:
With appropriate Treatment and management pts with Weaver syndrome do well,both physically and intellectually through out their life and have a normal life space.
Their adult Height can reach 7-8 feet.
CARRY HOME MESSAGE :
Weaver syndrome is identified clinical suspicion followed Whole exome sequencing