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==Differential Diagnosis==
==Differential Diagnosis==
=== 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:
{| class="wikitable"
! rowspan="2" |Fetal chromosomal abnormality
! colspan="4" |Quad screen results
! rowspan="2" |'''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 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:
{| class="wikitable"
! rowspan="2" |Congenital condition
! colspan="14" |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
| +
| +
| +
| +
| +
| +
| +
| +
| -
|
* Brushfield spots
* Amblyopia
* Corneal ectasis
* Presenile cataracts
* Glaucoma
* Retinovascular abnormalities
* Strabismus
* Refractive errors
* Corneal hydrops
| +
|Increased
| +
| +
|-
|Isolated hypotonia
| +
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
| -
|-
|Congenital hypothroidism
| +
| +
| +
| +
| -
| -
| -
| +
| +
|
* Refractive errors
* Strabismus
| -
| -
| +
| -
|-
|Zellwegger syndrome
| +
| +
| +
| +
| +
| +
| +
| +
| -
|
* Brushfield spots
* Cataracts
| -
| -
| -
| -
|}
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 syndrome|Wolfram syndromes]].<ref name="pmid21533467">{{cite journal |vauthors=Sherer Y, Bardayan Y, Shoenfeld Y |title=Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review) |journal=Int. J. Oncol. |volume=10 |issue=5 |pages=939–43 |year=1997 |pmid=21533467 |doi= |url=}}</ref><ref name="Nozza2017">{{cite journal|last1=Nozza|first1=Andrea|title=POEMS SYNDROME: AN UPDATE|journal=Mediterranean Journal of Hematology and Infectious Diseases|volume=9|issue=1|year=2017|pages=e2017051|issn=2035-3006|doi=10.4084/mjhid.2017.051}}</ref><ref name="pmid17342029">{{cite journal |vauthors=Maceluch JA, Niedziela M |title=The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy |journal=Pediatr Endocrinol Rev |volume=4 |issue=2 |pages=117–37 |year=2006 |pmid=17342029 |doi= |url=}}</ref><ref name="pmid22790102">{{cite journal |vauthors=Rigoli L, Di Bella C |title=Wolfram syndrome 1 and Wolfram syndrome 2 |journal=Curr. Opin. Pediatr. |volume=24 |issue=4 |pages=512–7 |year=2012 |pmid=22790102 |doi=10.1097/MOP.0b013e328354ccdf |url=}}</ref><ref name="HusebyeAnderson2010">{{cite journal|last1=Husebye|first1=Eystein S.|last2=Anderson|first2=Mark S.|title=Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis|journal=Immunity|volume=32|issue=4|year=2010|pages=479–487|issn=10747613|doi=10.1016/j.immuni.2010.03.016}}</ref>
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 syndrome|Wolfram syndromes]].<ref name="pmid21533467">{{cite journal |vauthors=Sherer Y, Bardayan Y, Shoenfeld Y |title=Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review) |journal=Int. J. Oncol. |volume=10 |issue=5 |pages=939–43 |year=1997 |pmid=21533467 |doi= |url=}}</ref><ref name="Nozza2017">{{cite journal|last1=Nozza|first1=Andrea|title=POEMS SYNDROME: AN UPDATE|journal=Mediterranean Journal of Hematology and Infectious Diseases|volume=9|issue=1|year=2017|pages=e2017051|issn=2035-3006|doi=10.4084/mjhid.2017.051}}</ref><ref name="pmid17342029">{{cite journal |vauthors=Maceluch JA, Niedziela M |title=The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy |journal=Pediatr Endocrinol Rev |volume=4 |issue=2 |pages=117–37 |year=2006 |pmid=17342029 |doi= |url=}}</ref><ref name="pmid22790102">{{cite journal |vauthors=Rigoli L, Di Bella C |title=Wolfram syndrome 1 and Wolfram syndrome 2 |journal=Curr. Opin. Pediatr. |volume=24 |issue=4 |pages=512–7 |year=2012 |pmid=22790102 |doi=10.1097/MOP.0b013e328354ccdf |url=}}</ref><ref name="HusebyeAnderson2010">{{cite journal|last1=Husebye|first1=Eystein S.|last2=Anderson|first2=Mark S.|title=Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis|journal=Immunity|volume=32|issue=4|year=2010|pages=479–487|issn=10747613|doi=10.1016/j.immuni.2010.03.016}}</ref>


Revision as of 03:55, 21 March 2018

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Differential Diagnosis

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:

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 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:

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 + + + + + + + + -
  • Brushfield spots
  • Amblyopia
  • Corneal ectasis
  • Presenile cataracts
  • Glaucoma
  • Retinovascular abnormalities
  • Strabismus
  • Refractive errors
  • Corneal hydrops
 + Increased + +
Isolated hypotonia + - - - - - - - - - - - - -
Congenital hypothroidism + + + + - - - + +
  • Refractive errors
  • Strabismus
 - - + -
Zellwegger syndrome + + + + + + + + -
  • Brushfield spots
  • Cataracts
 - - - -

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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