Down syndrome differential diagnosis: Difference between revisions

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{{Down syndrome}}
{{Down syndrome}}
== Overview ==
The [[diagnosis]] of Down syndrome should be suspected in [[pre-natal]] assessment of fetuses on [[ultrasound]] examination. Second [[quad screen]] showing decreased [[Alpha-fetoprotein|alfa-fetoprotein]] ([[Alpha-fetoprotein|AFP]]) should raise the suspicion of [[fetal]] [[chromosomal]] abnormlaity. [[Pre-natal]] differentials of low [[Alpha-fetoprotein|AFP]] include Down syndrome, [[Edwards syndrome]] and [[Patau syndrome]]. In the newborn, Down syndrome should be differentiated from other [[Congenital disorder|congenital]] conditions presenting with [[hypotonia]], [[poor feeding]], [[poor growth]] and [[Dysmorphic feature|dysmorphic]] facial features. The differentials include isolated [[hypotonia]], [[congenital hypothyroidism]] and [[Zellweger syndrome]].


==Differential Diagnosis==
==Differential Diagnosis==


=== Pre-natal differentials ===
=== Pre-natal differentials ===
The diagnosis of Down syndrome should be suspected in pre-natal assessment of fetuses on ultrasound examination. Second quad screen showing decreased alfa-fetoprotein (AFP) should raise the suspicion of fetal chromosomal abnormlaity. The following are the differential diagnosis of decreased AFP levels during a first trimester quad screen:
The [[diagnosis]] of Down syndrome should be suspected in [[pre-natal]] assessment of [[fetuses]] on [[ultrasound]] examination during [[first trimester]] of [[pregnancy]]. [[Second trimester]] [[quad screen]] showing decreased [[Alpha-fetoprotein|alfa-fetoprotein]] ([[Alpha-fetoprotein|AFP]]) should raise the suspicion of [[fetal]] [[chromosomal]] abnormlaity. The following are the differential diagnosis of decreased [[Alpha-fetoprotein|AFP]] levels during a [[first trimester]] [[quad screen]]:


{| class="wikitable"
{| class="wikitable"
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! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Inhibin A'''
! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Inhibin A'''
|-
|-
|Down syndrome (trisomy 21)
|'''Down syndrome (trisomy 21)'''
|↓
|↓
|↑
|↑
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|↓
|↓
|-
|-
|Edwards syndrome (trisomy 18)
|'''Edwards syndrome (trisomy 18)'''
|↓
|↓
|↓
|↓
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=== Differentials in newborns and children ===
=== Differentials in newborns and children ===
In the newborn, Down syndrome should be differentiated from other congenital conditions presenting with hypotonia, poor feeding, poor growth and dysmorphic facial features. The differentials include the following:
In the [[newborns]] and [[children]], Down syndrome should be differentiated from other congenital conditions presenting with [[hypotonia]], [[poor feeding]], [[poor growth]] and [[Dysmorphic feature|dysmorphic]] facial features. The differentials include the following:


{| class="wikitable"
{| class="wikitable"
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! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Downward turned mouth'''
! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Downward turned mouth'''
|-
|-
|Down syndrome
|'''Down syndrome'''
| +
| +
| +
| +
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| -
| -
|
|
* Brushfield spots
* [[Brushfield spots]]
* Amblyopia
* [[Amblyopia]]
* Corneal ectasis
* [[Corneal]] ectasis
* Presenile cataracts
* [[Cataract|Presenile cataracts]]
* Glaucoma
* [[Glaucoma]]
* Retinovascular abnormalities
* Retinovascular abnormalities
* Strabismus
* [[Strabismus]]
* Refractive errors
* [[Refractive error|Refractive errors]]
* Corneal hydrops
* [[Corneal]] hydrops
| +
| +
|Increased
|Increased
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| +
| +
|-
|-
|Isolated hypotonia
|'''Congenital hypothroidism'''
| +
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
|-
|Congenital hypothroidism
| +
| +
| +
| +
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| +
| +
|
|
* Refractive errors
* [[Refractive error|Refractive errors]]
* Strabismus
* [[Strabismus]]
| -
| -
| -
| -
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| -
| -
|-
|-
|Zellwegger syndrome
|'''Zellwegger syndrome'''
| +
| +
| +
| +
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| -
| -
|
|
* Brushfield spots
* [[Brushfield spots]]
* Cataracts
* [[Cataracts]]
| -
| -
| -
| -
|-
|'''Isolated hypotonia'''
| +
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -

Revision as of 04:10, 21 March 2018

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Overview

The diagnosis of Down syndrome should be suspected in pre-natal assessment of fetuses on ultrasound examination. Second quad screen showing decreased alfa-fetoprotein (AFP) should raise the suspicion of fetal chromosomal abnormlaity. Pre-natal differentials of low AFP include Down syndrome, Edwards syndrome and Patau syndrome. In the newborn, Down syndrome should be differentiated from other congenital conditions presenting with hypotonia, poor feeding, poor growth and dysmorphic facial features. The differentials include isolated hypotonia, congenital hypothyroidism and Zellweger syndrome.

Differential Diagnosis

Pre-natal differentials

The diagnosis of Down syndrome should be suspected in pre-natal assessment of fetuses on ultrasound examination during first trimester of pregnancy. Second trimester quad screen showing decreased alfa-fetoprotein (AFP) should raise the suspicion of fetal chromosomal abnormlaity. The following are the differential diagnosis of decreased AFP levels during a first trimester quad screen:

Fetal chromosomal abnormality Quad screen results Pregnancy associated protein-A (PAPP-A)
Alfa-fetoprotein (AFP) Beta human chorionic gonadotrpin (B-hCG) Estriol Inhibin A
Down syndrome (trisomy 21) ↓ ↑ ↓ ↑ ↓
Edwards syndrome (trisomy 18) ↓ ↓ ↓ ↓ or normal ↓
Patau syndrome (trisomy 13) ↓ ↓ ↓ ↓ ↓

Differentials in newborns and children

In the newborns and children, Down syndrome should be differentiated from other congenital conditions presenting with hypotonia, poor feeding, poor growth and dysmorphic facial features. The differentials include the following:

Congenital condition Physical examination
Hypotonia Poor feeding Poor growth Dysmorphic features Single palmar crease Epicanthal folds Flat occiput and face Seizures Dry skin Ophtalmologic examination Abundant neck skin Gap between first and second fingers Protruding tongue Downward turned mouth
Down syndrome + + + + + + + + - + Increased + +
Congenital hypothroidism + + + + - - - + + - - + -
Zellwegger syndrome + + + + + + + + - - - - -
Isolated hypotonia + - - - - - - - - - - - - -

Down syndrome must be differentiated from other similar conditions which lead to multiple endocrine disorders such as autoimmune polyendocrine syndrome, POEMS syndrome, Hirata syndrome, Kearns–Sayre syndrome and Wolfram syndromes.[1][2][3][4][5]

Disease Addison's disease Type 1 diabetes mellitus Hypothyroidism Other disorders present
APS type 1 + Less common Less common Hypoparathyroidism
Candidiasis
Hypogonadism
APS type 2 + + + Hypogonadism
Malabsorption
APS type 3 - + + Malabsorption
Thymoma + - + Myasthenia gravis
Cushing syndrome
Chromosomal abnormalities
(Turner syndrome,
Down's syndrome) 		- + + Cardiac dysfunction
Kearns–Sayre syndrome - + - Myopathy
Hypoparathyroidism
Hypogonadism
Wolfram syndrome - + - Diabetes insipidus
Optic atrophy
Deafness
POEMS syndrome - + - Polyneuropathy
Hypogonadism
Plasma cell dyscrasias

References

  1. ↑ Sherer Y, Bardayan Y, Shoenfeld Y (1997). "Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review)". Int. J. Oncol. 10 (5): 939–43. PMID 21533467.
  2. ↑ Nozza, Andrea (2017). "POEMS SYNDROME: AN UPDATE". Mediterranean Journal of Hematology and Infectious Diseases. 9 (1): e2017051. doi:10.4084/mjhid.2017.051. ISSN 2035-3006.
  3. ↑ Maceluch JA, Niedziela M (2006). "The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy". Pediatr Endocrinol Rev. 4 (2): 117–37. PMID 17342029.
  4. ↑ Rigoli L, Di Bella C (2012). "Wolfram syndrome 1 and Wolfram syndrome 2". Curr. Opin. Pediatr. 24 (4): 512–7. doi:10.1097/MOP.0b013e328354ccdf. PMID 22790102.
  5. ↑ Husebye, Eystein S.; Anderson, Mark S. (2010). "Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis". Immunity. 32 (4): 479–487. doi:10.1016/j.immuni.2010.03.016. ISSN 1074-7613.
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