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Table of Contents    
Year : 2014  |  Volume : 62  |  Issue : 2  |  Page : 189-191

Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9)t(7;9)(p15;p22)pat)

1 Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, China
2 Department of Gynaecology and Obstetrics, The First Affiliated Hospital, Third Military Medical University, Chongqing, China

Date of Submission27-Dec-2013
Date of Decision02-Feb-2014
Date of Acceptance06-Apr-2014
Date of Web Publication14-May-2014

Correspondence Address:
Hong Yao
Department of Gynaecology and Obstetrics, The First Affiliated Hospital, Third Military Medical University, Chongqing
Mei Li
Department of Neurology, Children's Hospital of Chongqing Medical University, No. 136 Zhongshan 2nd Road, Yuzhong, Chongqing-400014
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.132393

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 » Abstract 

Infantile spasm (IS) is an epilepsy syndrome affecting infants and young toddlers and many causes have been reported, including occasional chromosomal abnormalities. We describe a 6-month-oldboy who experienced his first seizure at 5 months of age. The seizures were characterized by brief head nods and forceful flexion of the trunk and limbs. The patient has been developmentally delayed since birth and had deteriorated remarkably in the last month. Interictal electroencephalography showed modified hypsarrhythmia. Magnetic resonance imaging showed delayed myelination and widened brain extracellular space. Chromosomal analysis revealed the karyotype 46, XY, der(9) t(7;9)(p15;p22) pat. His father has the asymptomatic reciprocal translocation t(7;9)(p15;p22). This chromosomal abnormality is probably the etiology for the ISs and severe developmental anomalies in this patient. Chromosomal analysis may be done in patients with IS with no obvious cause.

Keywords: Chromosome, epilepsy, hypsarrhythmia, infantile spasms

How to cite this article:
Zhong M, Dong Y, Li M, Yao H. Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9)t(7;9)(p15;p22)pat). Neurol India 2014;62:189-91

How to cite this URL:
Zhong M, Dong Y, Li M, Yao H. Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9)t(7;9)(p15;p22)pat). Neurol India [serial online] 2014 [cited 2021 Jun 14];62:189-91. Available from:

 » Introduction Top

Infantile spasms (IS) is an epilepsy syndrome characterized by epileptic spasms, mental regression, and hypsarrhythmia on electroencephalography (EEG) and is an age-specific epilepsy syndrome occurring primary in the first year of life with an estimated prevalence of 1 in 2.000-6,000 live births. [1] Many causes of IS have been reported, including occasional chromosomal abnormalities of which trisomy 21 is the most common. [1] We report a 6-month old boy with IS with an rare abnormal karyotype (46, XY, der(9) t(7;9)(p15;p22) pat), which has not been described earlier in the literature.

 » Case Report Top

The boy was born to non-consanguineous Chinese parents at 39 weeks and 4 days of gestation and the delivery was normal, Apgar scores at l and 5 minutes were 8 and 10, respectively, birth weight was 3,050 gm, and the boy was fourth in birth order and the first and third pregnancies were artificially aborted. The first sibling is 14-year old and healthy. The child was developmentally delayed with hypotonia, head control at 3-4 months, failure to sit at 6 months, and there has been remarkable regression of mile stones with repetitive spasms in the last one month, at 5 months of age. The spasms were characterized by brief head nods and forceful flexion of the trunk and limbs, up rolling of eyes, beating of eyes, eye-lid beating, mumbling, and cyanosis. The spasms used to occur singly or in clusters (6-20 per day) and each cluster used to last? less than one minute. The child had not received any specific treatment.

At this admission he was 6-months-old: body weight 8,050 gm (P43), length 66 cm (P9.3), and head circumference 46 cm (P95.9). He had multiple anomalies: Anterior fontanel was large (4.0 × 4.0 cm), prominent metopic suture (0.7 cm) to the bottom of the nose, telecanthus, hypertelorism, low-set ears, bilateral microtia, flat nasal bridge, bilateral simian creases, short and broad first toes, and umbilical hypotonia. The boy was hypotonic with no good head control.

Cranial magnetic resonance imaging (MRI) revealed delayed in myelination and widened brain extracellular space [Figure 1]. Interictal electroencephalography (EEG) showed modified hypsarrhythmia, and ictal EEG showed generalized slow wave combined with low-amplitude sharp rhythm [Figure 2]. Chromosomal analysis revealed the karyotype 46, XY, der (9) t (7;9)(p15;p22) pat [Figure 3]a. Parental karyotyping indicated reciprocal translocation t (7;9)(p15;p22) in the patient's father [Figure 3]b, while the mother had a normal karyotype.
Figure 1: (a) Magnetic resonance imaging (MRI) T1-weighted axial slices show widened bilateral frontal (∇) and parietal brain extracellular space (∇). (b) MRI T2-weighted show some delay in myelination and widened brain extracellular space (∇)

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Figure 2: (a) Interictal electroencephalogram at 6 months of age revealing modified hypsarrythmia. (Sens=sensitivity, TC=time constant, HF=high-frequency filters, PAT=pattern, Ref=referential electrode) (b) Generalized slow wave combined with low-amplitude sharp rhythm was shown during a clinical spasm (▼)

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Figure 3: (a) G-banding karyograms of the patient. Note the additional chromatin on the homologue 9p to the right and 9p22 partial deletion (↓). (b) G-banding karyograms of the father. Note the reciprocal translocation between 7p and 9p (↓)

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He was treated with intravenous dexamethasone (0.75 mg/kg/day for 4 days) followed by oral prednisone (2 mg/kg/day for 8 weeks) and valproate (25 mg/kg/day) with which there was decrease in the frequency of spasms to two to three clusters per day. At follow-up the spasms were drug resistant and we were informed that he died at the age of 10 months of age due to severe pneumonia.

 » Discussion Top

The majority of lesions responsible for epilepsy with infantile-onset are attributable to prenatal causes. Patients with chromosomal abnormalities account for 5.5-13% of prenatal etiologies [2],[3] and 8% of all etiologies. [4] Down's syndrome is the most common chromosomal abnormality reported in patients with IS; however, many other types of chromosomal abnormalities have been reported, including 1p36 deletion, 17p 13.3 microdeletion, 22q, XXY [4] , partial 2p trisomy, 4p trisomy, 7q trisomy, 7q duplication, 15p tetrasomy, 15q duplication, 18p monosomy, 18q duplication, 21 trisomy, t (12;21), t (X; 18)(p22;p11.2), t (6;14)(q27;q13.3), t (1;Y), and disomy for Xq26.3-qter [2],[3] , 5q14.3, 7q11.23-q21.1, tetrasomy 12p, 15q13.3, 16p13.11 microdeletion, 17q21.31 microdeletion, and 19p13 deletion. [5],[6],[7],[8] It was once presumed that the chromosomal abnormality, trisomy 7q33->qter and monosomy 9 pter->p23, found in a child was probably the etiology for the IS and multiple anomalies, and the epilepsy is most likely resulted from the distal 7q duplication and not distal 9p deletion. [9] Epilepsy was once associated with chromosome 7 abnormities: Trisomy of the short-arm of chromosome 7 was formerly reported to be associated with epileptic crises [10] and long-arm deletion of chromosome 7 was also previously found to be associated with IS. [11] However, to the best of our knowledge, no short-arm abnormities of chromosome 7 have been previously reported to be associated with IS. Therefore, our patient adds further evidence that IS may be associated with 9p22 partial deletion or the additional chromatin of 7p15, but further studies are needed to confirm this hypothesis.

Further mutation analysis of this patient and his father was not performed because we did not obtain parental consent. The abnormal karyotype of this IS case has not been reported in the past and no associated phenotype has been previously described. Based on our patient's case history, we assume that the identified chromosomal abnormality is the main etiologic factor responsible for the patient's IS and severe developmental anomalies. Chromosomal analysis should be performed for epileptic patients with infantile-onset when the cause is unclear, especially in combination with multiple abnormalities and developmental delay.

 » References Top

1.Zupanc ML. Infantile spasms. Expert Opin Pharmacother 2003;4:2039-48.  Back to cited text no. 1
2.Akabori S, Takano T, Fujito H, Takeuchi Y. West syndrome in a patient with balanced translocation t (X;18)(p22;p11.2). Pediatr Neurol 2007;37:64-6.  Back to cited text no. 2
3.Ohtahara S, Ohtsuka Y, Yamatogi Y, Oka E, Yoshinaga H, Sato M. Prenatal etiologies of West syndrome. Epilepsia 1993;34:716-22.  Back to cited text no. 3
4.Osborne JP, Lux AL, Edwards SW, Hancock E, Johnson AL, Kennedy CR, et al. The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification. Epilepsia 2010;51:2168-74.  Back to cited text no. 4
5.Shimojima K, Okumura A, Mori H, Abe S, Ikeno M, Shimizu T, et al. De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum. Am J Med Genet A 2012;158A:2272-6.  Back to cited text no. 5
6.Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 2008;83:106-11.  Back to cited text no. 6
7.Auvin S, Holder-Espinasse M, Lamblin MD, Andrieux J. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia 2009;50:2501-3.  Back to cited text no. 7
8.Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, et al. De novo 15q13.3 microdeletion with cryptogenic West syndrome. Am J Med Genet A 2013;161:2582-7.  Back to cited text no. 8
9.Tuysuz B, Demirel A, Uysal S, Beyer V, Bartsch O. Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation. Genet Couns 2008;19:29-35.  Back to cited text no. 9
10.Garcia-Alvarez I, Burillo MP, Aldonza-Ania M, Yagues ML, Mauri JA.Epileptic crises associated with trisomy of the short arm of chromosome 7 (46,XY,7p+). Rev Neurol 2000;30:500.  Back to cited text no. 10
11.Crawfurd MD, Kessel I, Liberman M, McKeown JA, Mandalia PY, Ridler MA. Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities. J Med Genet 1979;16:453-60.  Back to cited text no. 11


  [Figure 1], [Figure 2], [Figure 3]


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