আমরা মাঝেমাঝেই বিভিন্ন জায়গায় কিছু মানুষ দেখি যারা দেখতে প্রায় একই রকম।
দেখতে অনেকটা অস্বাভাবিক ( মাথা ছোট,চ্যাপ্টা নাক ও মুখ,চোখ সামান্য তির্যক,ছোট কান,বড় জিব্বা ইত্যাদি)
এটাকে আমরা Down syndrome বলি।
কয়েকদিন আগে পেডি ওয়ার্ডে এমনই এক pt দেখি। Down syndrome এর সব features ই ছিলো।
ছেলেটা খুবই চঞ্চল, লাফালাফি, নাচানাচি করতেছিলো। একবার স্যারের চশমা টানে তো একবার আমাদের stethoscope…
তো আজকে Down syndrome in pediatrics নিয়ে আলোচনা করা যাক……
Down syndrome is the commonest chromosomal anomaly.
Aetiology & Risk factor:
— Unknown
— Incidence increase with advance maternal age. ( 35 =< )
Pathogenesis :
The disease is charactarized by the….presence of an extra copy of genetic material on chromosome 21,either whole or in part
And occurs in 3 ways-
— Chromosomal non-disjunction (95%)
— Robertsonian translocation (4%)
— Mosaicism (1%)
Clinical features :
Head and face:
— Brachycephaly
— Microcephaly
— Flat nasal bridge
Eyes:
— Upward slanting of palpebral fissure
— Epicanthic fold ( জাপানিজ দের চোখের মতো)
Ears:
— Low set ears
— Chronic otitis media
Oral cavity and teeth:
— Macroglossia
— Furrowed tongue
— Dental abnormalities ( like malposition)
Hands and feet:
— Board and short hand,Clinodactyly
— Simian crease
— Increased gap between 1st and 2nd toes
Neurophysiologic:
— Intellectual disability ( IQ range from 20-75)
— Affinity for music
Muscle :
— Generalized hypotonia
Sexual development :
— Delay in development of secondary sexual development
— Adult males are infertile
But
Females are fertile.
Common associated illness :
Congenital heart diseases :
— VSD
— AV canal defect
GIT anomalies :
— Hirschsprung disease
Frequent infection :
— Recurrent respiratory infection
Endocrinopathies:
— Hypothyroidism
— DM
Malignancy :
— Leukemia
Musculoskeletal:
— Atlanto-occipital subluxation
— Dislocation of hip
Alzheimers disease
Diagnosis :
— History of advanced maternal age
— Typical clinical features
— Karyotyping
INVESTIGATIONS to screen out complications :
CBC, PBF ( polycythaemia, increased MCV)
Chest X-ray ( cardiac anomalies, pneumonia)
Blood glucose to exclude DM
Echocardiography
TSH,FT4 to rule out hypothyroidism
Management :
— Counselling parents about the nature & future of the problem.
— Early & regular stimulation of the child. ( exposure to games,music,interaction etc.)
— Treatment of any associated illness.
Prognosis :
— Around 20% patients die within 1st yr.
— Around 45% survive up to 60 years.
(Reference – Step on to pediatrics)
Raiyyan Tahsan Date:3-3-2025 Monday Time;10-40-23 Pm
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