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May 1994, Vol 148, No. 5 >
Article | May 1994

Hyperekplexia Associated With Apnea and Sudden Infant Death Syndrome FREE

George P. Giacoia, MD; Stephen G. Ryan, MD
Arch Pediatr Adolesc Med. 1994;148(5):540-543. doi:10.1001/archpedi.1994.02170050098025.
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Stiff-baby syndrome or hyperekplexia (also known as startle disease) is an unusual familial neurologic disorder that may be associated with fatal apnea or an apparent life-threatening event in infancy. While the neonatal clinical features of increased muscle tone, pathologic startle response, and occasional myoclonic jerks have been reported,1 the association of hyperekplexia with apnea and feeding difficulties has not been emphasized in the pediatric literature.

The purpose of this report is to document further the association of sudden infant death syndrome (SIDS) and recurrent apnea of infancy with hyperekplexia, to describe possible common pathogenic mechanisms, and to summarize the response to myorelaxing therapy. In addition, we provide further evidence for assignment of the hyperekplexia gene to chromosome 5q.

Patient Report. A white male infant (propositus) was born after an uncomplicated pregnancy and weighed 2683 g at birth. His Apgar score was 7/9 at 1 and 5 minutes. At birth,

REFERENCES

1 +
Tohier C, Roze JC, David A, Veccierini MF, Renaud P, Mouzar D.  Hyperexplexia or stiff-baby syndrome . Arch Dis Child . 1991;;66:460-461.
2 +
Wright DK, Manos MN.  Sample preparation from paraffin-embedded tissues . In: Innis MA, Gelfand DH, Sninsky JJ, White TJ, eds. PCR Protocols . Orlando, Fla: Academic Press Inc; 1990;.
3 +
Ryan SG, Dixon MJ, Nigro MH, et al.  Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q . Am J Hum Genet . 1992;;51: 1334-1343.
4 +
Lathrop GM, Lalouel J-M, Julier C, Ott J.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination . Am J Hum Genet . 1985;;37:482-498.
5 +
Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW.  Startle disease or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis . Ann Neurol . 1992;;31:663-668.
6 +
Shahar E, Brand N, Vziel Y, Barak Y.  Nose tapping test including a generalized flexor spasm: a hallmark of hyperexplexia . Acta Paediatr Scand . 1991;; 80:1073-1077.
7 +
Klein R, Haddow JE, DeLuca C.  Familial congenital disorder resembling stiffman syndrome . AJDC . 1972;;124:730-731.
8 +
Kurczynski T.  Hyperekplexia . Arch Neurol . 1983;;40:246-248.
9 +
Sander JE, Layzer RB, Goldsobel AB.  Congenital stiff-man syndrome . Arch Neurol . 1980;;8:195-197.
10 +
Lingam S, Wilson J, Hart EW.  Hereditary stiff-baby syndrome . AJDC . 1981;; 135:909-911.
11 +
Morley DJ, Weaver DD, Garo BP, Markand O.  Hyperexplexia: an inherited disorder of the startle response . Clin Genet . 1982;;21:388-396.
12 +
Vigeland P, DiCapua N, Dalla Bernardina B.  Startle disease: an avoidable cause of sudden infant death . Lancet . 1989;;i:216-218.
13 +
Brown P, Rothwell JC, Thompson PD, Britton TC, Day BL, Marsden CD.  The hyperekplexias and their relationship to the normal startle reflex . Brain . 1991;; 114:1903-1928.
14 +
Nigro MA, Lim HCN.  Hyperekplexia and sudden neonatal death . Pediatr Neurol . 1992;;8:221-225.
15 +
Suhren O, Bruyn GW, Tuynman JA.  Hyperexplexia: a hereditary startle syndrome . J Neurol Sci . 1966;;3:577-605.
16 +
Andermann F, Keene DL, Andermann E, Ouesney LF.  Startle disease or hyperekplexia . Brain . 1980;;103:985-997.
17 +
Saenz-Lope E, Herranz-Tanarro FI, Masdeu JC, Chacon Pena JR.  Hyperekplexia: a syndrome of pathological startle responses . Ann Neurol . 1984;;15:36-41.
18 +
Kelts KA, Harrison J.  Hyperexplexia: effective treatment with clonazepam . Ann Neurol . 1988;;24:309-312.
19 +
Pooley JM, Andermann F.  Startle disease or hyperexplexia: adolescent onset and response to valproate . Pediatr Neurol . 1989;;5:126-127.
20 +
Markand ON, Garg B, Weaver DD.  Familial startle disease (hyperexplexia) . Arch Neurol . 1984;;41:71-74.
21 +
Mitsumoto H, Schwartzman MJ, Estes SM, et al.  Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome . J Neurol . 1991;;238:91-96.
22 +
Hunt CE.  The cardiorespiratory control hypothesis for sudden infant death syndrome . Clin Perinatol . 1992;;19:757-771.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
Tohier C, Roze JC, David A, Veccierini MF, Renaud P, Mouzar D.  Hyperexplexia or stiff-baby syndrome . Arch Dis Child . 1991;;66:460-461.
2 +
Wright DK, Manos MN.  Sample preparation from paraffin-embedded tissues . In: Innis MA, Gelfand DH, Sninsky JJ, White TJ, eds. PCR Protocols . Orlando, Fla: Academic Press Inc; 1990;.
3 +
Ryan SG, Dixon MJ, Nigro MH, et al.  Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q . Am J Hum Genet . 1992;;51: 1334-1343.
4 +
Lathrop GM, Lalouel J-M, Julier C, Ott J.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination . Am J Hum Genet . 1985;;37:482-498.
5 +
Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW.  Startle disease or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis . Ann Neurol . 1992;;31:663-668.
6 +
Shahar E, Brand N, Vziel Y, Barak Y.  Nose tapping test including a generalized flexor spasm: a hallmark of hyperexplexia . Acta Paediatr Scand . 1991;; 80:1073-1077.
7 +
Klein R, Haddow JE, DeLuca C.  Familial congenital disorder resembling stiffman syndrome . AJDC . 1972;;124:730-731.
8 +
Kurczynski T.  Hyperekplexia . Arch Neurol . 1983;;40:246-248.
9 +
Sander JE, Layzer RB, Goldsobel AB.  Congenital stiff-man syndrome . Arch Neurol . 1980;;8:195-197.
10 +
Lingam S, Wilson J, Hart EW.  Hereditary stiff-baby syndrome . AJDC . 1981;; 135:909-911.
11 +
Morley DJ, Weaver DD, Garo BP, Markand O.  Hyperexplexia: an inherited disorder of the startle response . Clin Genet . 1982;;21:388-396.
12 +
Vigeland P, DiCapua N, Dalla Bernardina B.  Startle disease: an avoidable cause of sudden infant death . Lancet . 1989;;i:216-218.
13 +
Brown P, Rothwell JC, Thompson PD, Britton TC, Day BL, Marsden CD.  The hyperekplexias and their relationship to the normal startle reflex . Brain . 1991;; 114:1903-1928.
14 +
Nigro MA, Lim HCN.  Hyperekplexia and sudden neonatal death . Pediatr Neurol . 1992;;8:221-225.
15 +
Suhren O, Bruyn GW, Tuynman JA.  Hyperexplexia: a hereditary startle syndrome . J Neurol Sci . 1966;;3:577-605.
16 +
Andermann F, Keene DL, Andermann E, Ouesney LF.  Startle disease or hyperekplexia . Brain . 1980;;103:985-997.
17 +
Saenz-Lope E, Herranz-Tanarro FI, Masdeu JC, Chacon Pena JR.  Hyperekplexia: a syndrome of pathological startle responses . Ann Neurol . 1984;;15:36-41.
18 +
Kelts KA, Harrison J.  Hyperexplexia: effective treatment with clonazepam . Ann Neurol . 1988;;24:309-312.
19 +
Pooley JM, Andermann F.  Startle disease or hyperexplexia: adolescent onset and response to valproate . Pediatr Neurol . 1989;;5:126-127.
20 +
Markand ON, Garg B, Weaver DD.  Familial startle disease (hyperexplexia) . Arch Neurol . 1984;;41:71-74.
21 +
Mitsumoto H, Schwartzman MJ, Estes SM, et al.  Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome . J Neurol . 1991;;238:91-96.
22 +
Hunt CE.  The cardiorespiratory control hypothesis for sudden infant death syndrome . Clin Perinatol . 1992;;19:757-771.

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