Down’s syndrome

236 Down’s syndrome



Instruction


Look at this patient.



Salient features



History




• Ask the mother at what age she delivered the child (it occurs once in 1550 live births in women under the age of 20 years, in contrast to 1 in 25 live births for mothers over the age of 45 years).



Examination




• Collapse of the bridge of the nose


• Low-set ears


• Epicanthic folds


• Look at the iris for Brushfield’s spots: yellow speckles seen in young children


• Tell the examiner that you would like to:


• examine the hands for simian palmar crease (Fig. 236.1)

• examine for short inward curving of the little finger (Siegert’s sign)

• examine the heart for murmur of mitral regurgitation (endocardial cushion defects) and atrial septal defect (ASD; ostium primum type)

• check mental status quotient (MSQ) and formal IQ testing (80% have an IQ between 25 and 50)

• examine the foot for ankle pronation and pars planus (Fig. 236.2).

• Tell the examiner that you would like to check for hypothyroidism and thyroid antibodies


image

Fig. 236.1 Simian crease.


image

Fig. 236.2 Ankle pronation, loss of arch as a result of ligamentous laxity and pes planus.


(With permission from Davidson 2008.)



Diagnosis


This patient has features of Down syndrome (lesion), which is usually caused by trisomy 21 (aetiology) and is associated with a reduced life expectancy (functional status).



Questions




What complications can be seen in such patients?




• Increased incidence of acute leukaemia


• Presenile dementia of Alzheimer type (occurs in the fourth and fifth decades and reduces life expectancy)


• Atlantoaxial subluxation


• Duodenal atresia in children.

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Dec 4, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on Down’s syndrome

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