Down syndrome differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Down syndrome}} | {{Down syndrome}} | ||
{{CMG}}; {{AE}}{{HK}} | |||
== Overview == | == Overview == | ||
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=== Pre-natal differentials === | === 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 [[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]]: | 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]]:<ref name="pmid11180240">{{cite journal |vauthors=Benn PA, Ying J, Beazoglou T, Egan JF |title=Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification and double-positive results |journal=Prenat. Diagn. |volume=21 |issue=1 |pages=46–51 |date=January 2001 |pmid=11180240 |doi= |url=}}</ref><ref name="pmid26913244">{{cite journal |vauthors=Yazdani S, Rouholahnejad R, Asnafi N, Sharbatdaran M, Zakershob M, Bouzari Z |title=Correlation of pregnancy outcome with quadruple screening test at second trimester |journal=Med J Islam Repub Iran |volume=29 |issue= |pages=281 |date=2015 |pmid=26913244 |pmc=4764288 |doi= |url=}}</ref><ref name="pmid21072301">{{cite journal |vauthors=Reynolds T |title=The triple test as a screening technique for Down syndrome: reliability and relevance |journal=Int J Womens Health |volume=2 |issue= |pages=83–8 |date=August 2010 |pmid=21072301 |pmc=2971727 |doi= |url=}}</ref><ref name="pmid20466289">{{cite journal |vauthors=Shaw SW, Lin SY, Lin CH, Su YN, Cheng PJ, Lee CN, Chen CP |title=Second-trimester maternal serum quadruple test for Down syndrome screening: a Taiwanese population-based study |journal=Taiwan J Obstet Gynecol |volume=49 |issue=1 |pages=30–4 |date=March 2010 |pmid=20466289 |doi=10.1016/S1028-4559(10)60005-8 |url=}}</ref><ref name="pmid26237388">{{cite journal |vauthors=Cuckle H |title=Prenatal Screening Using Maternal Markers |journal=J Clin Med |volume=3 |issue=2 |pages=504–20 |date=May 2014 |pmid=26237388 |pmc=4449694 |doi=10.3390/jcm3020504 |url=}}</ref><ref name="pmid24381414">{{cite journal |vauthors=Shiefa S, Amargandhi M, Bhupendra J, Moulali S, Kristine T |title=First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome |journal=Indian J Clin Biochem |volume=28 |issue=1 |pages=3–12 |date=January 2013 |pmid=24381414 |pmc=3547446 |doi=10.1007/s12291-012-0269-9 |url=}}</ref><ref name="pmid27668198">{{cite journal |vauthors=Park SY, Jang IA, Lee MA, Kim YJ, Chun SH, Park MH |title=Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy |journal=Obstet Gynecol Sci |volume=59 |issue=5 |pages=357–66 |date=September 2016 |pmid=27668198 |pmc=5028642 |doi=10.5468/ogs.2016.59.5.357 |url=}}</ref> | ||
{| class="wikitable" | {| class="wikitable" | ||
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=== Differentials in newborns and children === | === 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 feature|dysmorphic]] facial features. The differentials include the following:<ref name="pmid15244118">{{cite journal |vauthors=Devlin L, Morrison PJ |title=Accuracy of the clinical diagnosis of Down syndrome |journal=Ulster Med J |volume=73 |issue=1 |pages=4–12 |date=May 2004 |pmid=15244118 |pmc=2475449 |doi= |url=}}</ref><ref name="pmid26836000">{{cite journal |vauthors=Kurtul BE, Ozer PA, Kabatas EU, Gürkan A, Aycan Z |title=Ophthalmic Manifestations in Children With Congenital Hypothyroidism |journal=J Pediatr Ophthalmol Strabismus |volume=53 |issue=1 |pages=29–34 |date=2016 |pmid=26836000 |doi=10.3928/01913913-20160113-06 |url=}}</ref><ref name="pmid9756810">{{cite journal |vauthors=Mutton D, Ide RG, Alberman E |title=Trends in prenatal screening for and diagnosis of Down's syndrome: England and Wales, 1989-97 |journal=BMJ |volume=317 |issue=7163 |pages=922–3 |date=October 1998 |pmid=9756810 |pmc=28676 |doi= |url=}}</ref> | 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:<ref name="pmid15244118">{{cite journal |vauthors=Devlin L, Morrison PJ |title=Accuracy of the clinical diagnosis of Down syndrome |journal=Ulster Med J |volume=73 |issue=1 |pages=4–12 |date=May 2004 |pmid=15244118 |pmc=2475449 |doi= |url=}}</ref><ref name="pmid26836000">{{cite journal |vauthors=Kurtul BE, Ozer PA, Kabatas EU, Gürkan A, Aycan Z |title=Ophthalmic Manifestations in Children With Congenital Hypothyroidism |journal=J Pediatr Ophthalmol Strabismus |volume=53 |issue=1 |pages=29–34 |date=2016 |pmid=26836000 |doi=10.3928/01913913-20160113-06 |url=}}</ref><ref name="pmid9756810">{{cite journal |vauthors=Mutton D, Ide RG, Alberman E |title=Trends in prenatal screening for and diagnosis of Down's syndrome: England and Wales, 1989-97 |journal=BMJ |volume=317 |issue=7163 |pages=922–3 |date=October 1998 |pmid=9756810 |pmc=28676 |doi= |url=}}</ref><ref name="OzturkKerimoglu2009">{{cite journal|last1=Ozturk|first1=Banu T|last2=Kerimoglu|first2=Hurkan|last3=Dikbas|first3=Oguz|last4=Pekel|first4=Hamiyet|last5=Gonen|first5=Mustafa S|title=Ocular changes in primary hypothyroidism|journal=BMC Research Notes|volume=2|issue=1|year=2009|pages=266|issn=1756-0500|doi=10.1186/1756-0500-2-266}}</ref><ref name="pmid23671347">{{cite journal |vauthors=Lee PR, Raymond GV |title=Child neurology: Zellweger syndrome |journal=Neurology |volume=80 |issue=20 |pages=e207–10 |date=May 2013 |pmid=23671347 |pmc=3908348 |doi=10.1212/WNL.0b013e3182929f8e |url=}}</ref><ref name="pmid23671347">{{cite journal |vauthors=Lee PR, Raymond GV |title=Child neurology: Zellweger syndrome |journal=Neurology |volume=80 |issue=20 |pages=e207–10 |date=May 2013 |pmid=23671347 |pmc=3908348 |doi=10.1212/WNL.0b013e3182929f8e |url=}}</ref><ref name="pmid26627182">{{cite journal |vauthors=Klouwer FC, Berendse K, Ferdinandusse S, Wanders RJ, Engelen M, Poll-The BT |title=Zellweger spectrum disorders: clinical overview and management approach |journal=Orphanet J Rare Dis |volume=10 |issue= |pages=151 |date=December 2015 |pmid=26627182 |pmc=4666198 |doi=10.1186/s13023-015-0368-9 |url=}}</ref><ref name="pmid20454578">{{cite journal |vauthors=Reddy PA, Rajagopal G, Harinarayan CV, Vanaja V, Rajasekhar D, Suresh V, Sachan A |title=High prevalence of associated birth defects in congenital hypothyroidism |journal=Int J Pediatr Endocrinol |volume=2010 |issue= |pages=940980 |date=2010 |pmid=20454578 |pmc=2864451 |doi=10.1155/2010/940980 |url=}}</ref> | ||
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** 46, XX, -14, +t(14q;21q) etc. | ** 46, XX, -14, +t(14q;21q) etc. | ||
| | | | ||
* [[Atrial septal defect]] (ASD) | |||
* [[Ventricular septal defect]] ([[VSD]]) | |||
* [[Atrioventricular septal defect]] | |||
* [[Patent ductus arteriosus]] ([[Patent ductus arteriosus|PDA]]) | |||
|- | |- | ||
|'''Congenital hypothroidism''' | |'''Congenital hypothroidism''' | ||
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* [[Strabismus]] | * [[Strabismus]] | ||
| - | | - | ||
| | | Increased | ||
| + | | + | ||
| - | | - | ||
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* 46, XX or 46, XY | * 46, XX or 46, XY | ||
| | | | ||
* [[Atrial septal defect ostium secundum|Ostium secundum]] type [[Atrial septal defect|ASD]] | |||
* [[Patent ductus arteriosus]] ([[Patent ductus arteriosus|PDA]]) | |||
|- | |- | ||
|'''Zellwegger syndrome''' | |'''Zellwegger syndrome''' | ||
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| | | | ||
* 46, XX or 46, XY | * 46, XX or 46, XY | ||
| | |<nowiki>-</nowiki> | ||
|- | |- | ||
|'''Isolated hypotonia''' | |'''Isolated hypotonia''' | ||
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| | | | ||
* 46, XX or 46, XY | * 46, XX or 46, XY | ||
| | |<nowiki>-</nowiki> | ||
|} | |} | ||
Latest revision as of 05:25, 21 March 2018
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Down syndrome Microchapters |
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Down syndrome differential diagnosis On the Web |
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American Roentgen Ray Society Images of Down syndrome differential diagnosis |
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Risk calculators and risk factors for Down syndrome differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Syed Hassan A. Kazmi BSc, MD [2]
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:[1][2][3][4][5][6][7]
| 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:[8][9][10][11][12][12][13][14]
| Congenital condition | Physical examination | Karyotype examination | Echocardiography | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hypotonia | Poor feeding | Poor growth | Dysmorphic features (simian crease) | Single palmar crease | Epicanthal folds | Flat occiput and face | Seizures | Dry skin | Ophtalmologic examination | Abundant neck skin | Gap between first and second fingers (sandal gap) | Protruding tongue | Downward turned mouth | Almond eyes | Round face | |||
| Down syndrome | + | + | + | + | + | + | + | + | - |
|
+ | Increased | + | + | + | + |
|
|
| Congenital hypothroidism | + | + | + | + | - | - | - | + | + | - | Increased | + | - | - | - |
|
||
| 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.[15][16][17][18][19]
| 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
- ↑ Benn PA, Ying J, Beazoglou T, Egan JF (January 2001). "Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification and double-positive results". Prenat. Diagn. 21 (1): 46–51. PMID 11180240.
- ↑ Yazdani S, Rouholahnejad R, Asnafi N, Sharbatdaran M, Zakershob M, Bouzari Z (2015). "Correlation of pregnancy outcome with quadruple screening test at second trimester". Med J Islam Repub Iran. 29: 281. PMC 4764288. PMID 26913244.
- ↑ Reynolds T (August 2010). "The triple test as a screening technique for Down syndrome: reliability and relevance". Int J Womens Health. 2: 83–8. PMC 2971727. PMID 21072301.
- ↑ Shaw SW, Lin SY, Lin CH, Su YN, Cheng PJ, Lee CN, Chen CP (March 2010). "Second-trimester maternal serum quadruple test for Down syndrome screening: a Taiwanese population-based study". Taiwan J Obstet Gynecol. 49 (1): 30–4. doi:10.1016/S1028-4559(10)60005-8. PMID 20466289.
- ↑ Cuckle H (May 2014). "Prenatal Screening Using Maternal Markers". J Clin Med. 3 (2): 504–20. doi:10.3390/jcm3020504. PMC 4449694. PMID 26237388.
- ↑ Shiefa S, Amargandhi M, Bhupendra J, Moulali S, Kristine T (January 2013). "First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome". Indian J Clin Biochem. 28 (1): 3–12. doi:10.1007/s12291-012-0269-9. PMC 3547446. PMID 24381414.
- ↑ Park SY, Jang IA, Lee MA, Kim YJ, Chun SH, Park MH (September 2016). "Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy". Obstet Gynecol Sci. 59 (5): 357–66. doi:10.5468/ogs.2016.59.5.357. PMC 5028642. PMID 27668198.
- ↑ Devlin L, Morrison PJ (May 2004). "Accuracy of the clinical diagnosis of Down syndrome". Ulster Med J. 73 (1): 4–12. PMC 2475449. PMID 15244118.
- ↑ Kurtul BE, Ozer PA, Kabatas EU, Gürkan A, Aycan Z (2016). "Ophthalmic Manifestations in Children With Congenital Hypothyroidism". J Pediatr Ophthalmol Strabismus. 53 (1): 29–34. doi:10.3928/01913913-20160113-06. PMID 26836000.
- ↑ Mutton D, Ide RG, Alberman E (October 1998). "Trends in prenatal screening for and diagnosis of Down's syndrome: England and Wales, 1989-97". BMJ. 317 (7163): 922–3. PMC 28676. PMID 9756810.
- ↑ Ozturk, Banu T; Kerimoglu, Hurkan; Dikbas, Oguz; Pekel, Hamiyet; Gonen, Mustafa S (2009). "Ocular changes in primary hypothyroidism". BMC Research Notes. 2 (1): 266. doi:10.1186/1756-0500-2-266. ISSN 1756-0500.
- ↑ 12.0 12.1 Lee PR, Raymond GV (May 2013). "Child neurology: Zellweger syndrome". Neurology. 80 (20): e207–10. doi:10.1212/WNL.0b013e3182929f8e. PMC 3908348. PMID 23671347.
- ↑ Klouwer FC, Berendse K, Ferdinandusse S, Wanders RJ, Engelen M, Poll-The BT (December 2015). "Zellweger spectrum disorders: clinical overview and management approach". Orphanet J Rare Dis. 10: 151. doi:10.1186/s13023-015-0368-9. PMC 4666198. PMID 26627182.
- ↑ Reddy PA, Rajagopal G, Harinarayan CV, Vanaja V, Rajasekhar D, Suresh V, Sachan A (2010). "High prevalence of associated birth defects in congenital hypothyroidism". Int J Pediatr Endocrinol. 2010: 940980. doi:10.1155/2010/940980. PMC 2864451. PMID 20454578.
- ↑ Sherer Y, Bardayan Y, Shoenfeld Y (1997). "Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review)". Int. J. Oncol. 10 (5): 939–43. PMID 21533467.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.