Dr Anakha V Ajay Dr Sajith KesavanDr Greeshma Issac(Dept of pediatricpulmonology) Dr C Jayakumar(Dept of paediatrics)
Four year old term LSCS female child was born to a non consanguenous parentage birth weight of 3.14kg
Post Natally child had history of NICU stay on day 1 due to neonatal sepsis, requiring ventilator support and discharged on day 11 of life.Developmental delay was present during early age but to pick up later
No other significant history
Child had history of early onset eczema noted from first month of life along with recurrent oral thrush
At one and half years of age child had sudden onset weakness of bilateral lower limbs, suspected GBS? and MRI done showed Gliosis in bilateralperiventricular white matter area, posteriorly which was managed with IVIG and steroids.
Child also had history of Herpes infection at three years of age managed with Acyclovir Child had history of recurrent respiratory tract infections since past one year ,she had ten hospital admissions which were managed with IV antibiotics and nebulised bronchodilators. CT Chest done recently in view of recurrent respiratory infections showed bilateral lower lobe predominant multifocal patchy consolidations( more in left lower lobe) and bronchial wall thickening and early bronchiectasis left >right.
Lab
TC-7.25K/uLN/L- 68/31%. PLT-1.5Lac/Ul. Hb-8.4g/dl.
LFT/RFT/
Electrolytes normal limits. Immunodefiencywork up done with immunoglobulin levels, lymphocyte subset analysis and NBT DHR were within normal limits.
Echo done showed moderate PAH and hence was started on diuretics and sildenafil. WES(Medgenome) identified a heterozygous variant in KMT2D associated with kabuki syndrome..
On examination,child appears pale withfew cervical, axillary lymphadenopathy and pan clubbing.
Head to toe examination revealed wooly, brittle, hypopigmented hair with significant scalp seborrhea, hyperpigmentedscars on legs and hands atopic dermatitis and tooth caries.
Auxologyshowed height of 95cm weight -11.5kg HC-50cm
Respiratory examination revealed bilateral air entry equal.
Other systemic examination were within normal limits.
Child was advised to be under regular follow up.
Kabuki syndrome is a rare congenital disorder of genetic origin characterised multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities and short stature.
A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. They also have feeding difficulties including gastroesophageal reflux, poor sucking ability, malabsorption,failure to thrive, immunodeficiency(recurrent infections) brachydactyly, clinodactyly,scoliosis or kyphosis, coarctation of the aorta, renal dysplasia or hypolplasia etc
The diagnosis of KS is established in a proband of any age with a history of infantile hypotonia, developmental delay, and/or intellectual disability and one or both of the following:
1.Typical dysmorphic features (long palpebral fissures with eversion of the lateral third of the lower eyelid, and ≥2 of the following: arched and broad eyebrows with the lateral third displaying notching or sparseness; short columella with depressed nasal tip; large, prominent, or cupped ears; persistent fingertip pads)
2.A heterozygous pathogenic variant in KMT2D or a heterozygous or hemizygous pathogenic variant in KDM6A
There is no cure for Kabuki syndrome. Treatment is directed toward the specific symptoms that are apparent in each individual and may require referral to an appropriate specialist. Early intervention is important to ensure that children with Kabuki syndrome reach their developmental potential. Special services that may be beneficial are special remedial education, physical and occupational therapy and speech therapy.
Prognosis:There is no cure but early intervention can make some symtomsmore manageable
Take home message:Early diagnosis and comprehensive medical care can significantly improve outcomes and quality of life.