Three year and five month year old female child, 4th child of non consanguinous marriage, dull term ba LSCS developmentally normal and immunised Up todate with birth weight of 4.2kgs presented for the evaluation of generalised hairiness over the body noticed since birth. There were no other active issues with the child. On examination, auxology was within normal limits. Child had generalised hypertrichosis, facies appeared dysmorphic and coarse– downslanting eyes with epicanthal folds, long lashes, broad flat nose, long philtrum with macroglossia, low posterior hair line and brachydactyly of fingers. Systolic murmur in the left upper sternal border was auscultated. Liver was palpable 4cm below the RCM.
Our differentials with regard to congenital hypertrichosis were–
Cornelia de Lange Syndrome
CAHMR Syndrome(Cataract Hypertrichosis and Mental Retardation Syndromes)
Zimmerman Laband Syndrome
Barber Say Syndrome
Cantu Syndrome
Child was evaluated. Ophthalmological examination was normal. 2D Echo showed tiny hemodynamically insignificant PDA.
USG Abdomen showed mild hepatomegaly with liver span of 11.5cm.
Pediatric Genetics consultation
WES was sent which showed a hetero novel Variant of Unknown Significance in Exon 32 of ABC9 gene suggestive of Cantu Syndrome.
Child was advised annual follow up and laser hair removal after seeking dermatology consultation.
At 5 years old, she was evaluated for complaints of multiple episodes of hemoptysis over 6 months. History of TB contact was present but GeneXpert was negative. CBC, CRP were normal. Chest Xray looked normal. PT/INR and aPTT were normal. ANA-IFA, C3, C4 were normal. Bronchoscopy done showed prominent dilated veins over segmental and lobar bronchial wall CT pulmonary angiogram done showed hypertrophied intercostobronchial artery and small saccular aneurysm from ectopic bronchial artery and multiple ground glass opacities in all segments of right lower lobe suggestive of pulmonary hemorrhage. 2D Echo done showed prominent aorto pulmonary collaterals from descending aorta and child was advised coiling.
Cantu’s Syndrome
Cantu’s Syndrome is characterized congenital hypertichosis, dysmorphic facies, enlarged heart with PDA–mostly requiring repair and skeletal abnormalities. Vascular abnormalities are common including those involving brain and retinal vasculature and pulmonary arterioveinous communications. While developmental delay is common, intellect is normal.
Carry Home Message
Rare genetic disorders can be identified with careful evaluation of children at first presentation itself and features suggestive of dysmorphic should always be evaluated.