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Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism
Brain & Development 22 (2000) 449±450
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Case report
Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism Haruo Hattori*, Tohru Yorifuji Department of Pediatrics, Kyoto University School of Medicine, Kyoto, Japan Received 5 June 2000; received in revised form 24 July 2000; accepted 1 September 2000
Abstract We reported a 15-year-old boy with idiopathic hypoparathyroidism who presented with paroxysmal kinesigenic choreoathetosis at age 10. Calcium levels were low and intact parathyroid hormones were undetectable in serum. Computed tomography showed calci®cations in the basal ganglia, thalamus, and cerebral white matter. He had a history of infantile convulsions with a benign outcome. The convulsions occurred in clusters at age 2.5 months, but they never recurred. This patient's clinical features were phenotypically indistinguishable from those of infantile convulsions and choreoathetosis (ICCA) syndrome q 2000 Elsevier Science B.V. All rights reserved. Keywords: Benign infantile convulsions; Benign partial epilepsy in infancy; Paroxysmal dyskinesias; ICCA syndrome; Hypoparathyroidism
1. Introduction Szepetowski et al. [1] recently de®ned a new hereditary neurological syndrome (infantile convulsions and choreoathetosis, ICCA), which is inherited as an autosomal dominant trait. The syndrome consists of two clinically distinct paroxysmal neurological disorders. One is seizures occurring in infancy with a favorable outcome, and the other is paroxysmal dyskinesias occurring later in childhood or adolescence. Here we describe a case of idiopathic hypoparathyroidism that appeared to be ICCA syndrome. 2. Case report The patient was a 15-year-old boy. He was born normally after an uncomplicated pregnancy. The gestational period was 39 weeks, and the birth weight was 3600 g. There was no consanguinity. His parents and three elder sisters were all healthy. At age 2.5 months, he developed afebrile seizures in clusters, altogether seven times in two consecutive days. Each seizure lasted for 10±20 s, and was a complex partial seizure consisting of a deviation of the eyes to the right or left and twitching of the ipsilateral limbs. He was alert and fed well between attacks. Interictal electroencephalogram (EEG) was normal. Serum calcium was 1.80 mmol/l (normal, 2.04±2.30), phosphorus was 2.40 mmol/l (normal, * Corresponding author. Tel.: 181-75-751-3300; fax: 181-75-752-2361. E-mail address: [email protected] (H. Hattori).
0.85±1.35), and magnesium was 0.98 mmol/l (normal, 0.70± 1.06). No medication was given. His parents did not seek further medical care. We saw him again at age 11. The seizures had not recurred except for two febrile convulsions at age 1 and 3. His psychomotor development had been normal. He had experienced paroxysmal dyskinesias for 6 months, since age 10. The attacks were characteristically precipitated by a sudden voluntary movement, such as starting to run fast. Each episode would last for 10±15 s, and occurred daily up to ®ve times a day. We witnessed a typical attack, in which he developed sudden bilateral dystonic abduction of the shoulder, forward ¯exion of the arm, ¯exion of the elbow, and extension of the knee. There was no pain or other subjective feelings. Consciousness was not lost. Physical and neurological examinations revealed no abnormalities between the attacks. Interictal EEG was normal. Computed tomography showed calci®cations in the basal ganglia, thalamus, and cerebral white matter (Fig. 1). Serum calcium was 1.42 mmol/l, phosphorous was 3.20 mmol/l, and magnesium was 0.74 mmol/l. The blood level of ionized calcium was 0.97 mmol/l (normal 1.10±1.34). Intact parathyroid hormones were undetectable in serum by an immunoradiometric assay. Fluorescent in situ hybridization (FISH) did not demonstrate the microdeletion of chromosome 22q11, which is responsible for velo-cardio-facial syndrome or DiGeorge syndrome. The lymphocytes responded normally to T-cell mitogens. He was diagnosed with idiopathic hypoparathyroidism. Carbamazepine (100
0387-7604/00/$ - see front matter q 2000 Elsevier Science B.V. All rights reserved. PII: S 0387-760 4(00)00180-7
450
H. Hattori, T. Yorifuji / Brain & Development 22 (2000) 449±450
ism [2]. The seizure occurs in infants from 2 weeks to 6 months of age. Paroxysmal kinesigenic choreoathetosis is known to occur secondary to hypoparathyroidism with basal ganglia calci®cations [3±8]. Normalization of the serum calcium level results in disappearance of dyskinetic attacks in such patients. However, the attacks can be suppressed by an anticonvulsant alone without correcting hypocalcemia [6,7], as was seen in our patient. This patient's clinical features were phenotypically indistinguishable from those of ICCA syndrome, i.e. a phenocopy caused by an organic lesion. The only difference was that his ®rst seizure occurred at age 2.5 months, instead of 3±12 months as observed in ICCA syndrome. Lack of a family history less favors the diagnosis of ICCA syndrome. However, it would be dif®cult to establish its genetic aspect, since the syndrome is inherited with incomplete penetrance and may occur sporadically. References
Fig. 1. Computed tomography showing prominent symmetric calci®cations in the basal ganglia.
mg/day) was given ®rst, and this completely suppressed the dystonic attacks. He then received 1a-hydroxyvitamin D3, which normalized the serum calcium level in two months. Carbamazepine was discontinued. The patient has been doing well on the vitamin D medication and is a good basketball player on the school team. The dystonic attacks have not recurred in the past 4 years. 3. Discussion Various neurological abnormalities are observed in patients with hypoparathyroidism. Infantile convulsions can be the ®rst manifestation of idiopathic hypoparathyroid-
[1] Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889±898. [2] Whyte MP, Weldon VV. Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. J Pediatr 1981;99:608±611. [3] Arden F. Idiopathic hypoparathyroidism. Med J Aust 1953;2:217±219. [4] Tabaee-Zadeh MJ, Frame B, Kapphahn K. Kinesiogenic choreoathetosis and idiopathic hypoparathyroidism. N Engl J Med 1972;286:762± 763. [5] Christiansen NJB, Hansen PF. Choreiform movements in hypoparathyroidism. N Engl J Med 1972;287:569±570. [6] Kato H, Kobayashi K, Kohari S, Okita N, Iijima K. Paroxysmal kinesigenic choreoathetosis and paroxysmal dystonic choreoathetosis in a patient with familial idiopathic hypoparathyroidism. Tohoku J Exp Med 1987;151:233±239. [7] Barabas G, Tucker SM. Idiopathic hypoparathyroidism and paroxysmal dystonic choreoathetosis. Ann Neurol 1988;24:585. [8] Micheli F, Pardal MF, Parera IC, Giannaula R. Idiopathic hypoparathyroidism and paroxysmal kinesigenic choreoathetosis. Ann Neurol 1989;26:415.
www.elsevier.com/locate/braindev
Case report
Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism Haruo Hattori*, Tohru Yorifuji Department of Pediatrics, Kyoto University School of Medicine, Kyoto, Japan Received 5 June 2000; received in revised form 24 July 2000; accepted 1 September 2000
Abstract We reported a 15-year-old boy with idiopathic hypoparathyroidism who presented with paroxysmal kinesigenic choreoathetosis at age 10. Calcium levels were low and intact parathyroid hormones were undetectable in serum. Computed tomography showed calci®cations in the basal ganglia, thalamus, and cerebral white matter. He had a history of infantile convulsions with a benign outcome. The convulsions occurred in clusters at age 2.5 months, but they never recurred. This patient's clinical features were phenotypically indistinguishable from those of infantile convulsions and choreoathetosis (ICCA) syndrome q 2000 Elsevier Science B.V. All rights reserved. Keywords: Benign infantile convulsions; Benign partial epilepsy in infancy; Paroxysmal dyskinesias; ICCA syndrome; Hypoparathyroidism
1. Introduction Szepetowski et al. [1] recently de®ned a new hereditary neurological syndrome (infantile convulsions and choreoathetosis, ICCA), which is inherited as an autosomal dominant trait. The syndrome consists of two clinically distinct paroxysmal neurological disorders. One is seizures occurring in infancy with a favorable outcome, and the other is paroxysmal dyskinesias occurring later in childhood or adolescence. Here we describe a case of idiopathic hypoparathyroidism that appeared to be ICCA syndrome. 2. Case report The patient was a 15-year-old boy. He was born normally after an uncomplicated pregnancy. The gestational period was 39 weeks, and the birth weight was 3600 g. There was no consanguinity. His parents and three elder sisters were all healthy. At age 2.5 months, he developed afebrile seizures in clusters, altogether seven times in two consecutive days. Each seizure lasted for 10±20 s, and was a complex partial seizure consisting of a deviation of the eyes to the right or left and twitching of the ipsilateral limbs. He was alert and fed well between attacks. Interictal electroencephalogram (EEG) was normal. Serum calcium was 1.80 mmol/l (normal, 2.04±2.30), phosphorus was 2.40 mmol/l (normal, * Corresponding author. Tel.: 181-75-751-3300; fax: 181-75-752-2361. E-mail address: [email protected] (H. Hattori).
0.85±1.35), and magnesium was 0.98 mmol/l (normal, 0.70± 1.06). No medication was given. His parents did not seek further medical care. We saw him again at age 11. The seizures had not recurred except for two febrile convulsions at age 1 and 3. His psychomotor development had been normal. He had experienced paroxysmal dyskinesias for 6 months, since age 10. The attacks were characteristically precipitated by a sudden voluntary movement, such as starting to run fast. Each episode would last for 10±15 s, and occurred daily up to ®ve times a day. We witnessed a typical attack, in which he developed sudden bilateral dystonic abduction of the shoulder, forward ¯exion of the arm, ¯exion of the elbow, and extension of the knee. There was no pain or other subjective feelings. Consciousness was not lost. Physical and neurological examinations revealed no abnormalities between the attacks. Interictal EEG was normal. Computed tomography showed calci®cations in the basal ganglia, thalamus, and cerebral white matter (Fig. 1). Serum calcium was 1.42 mmol/l, phosphorous was 3.20 mmol/l, and magnesium was 0.74 mmol/l. The blood level of ionized calcium was 0.97 mmol/l (normal 1.10±1.34). Intact parathyroid hormones were undetectable in serum by an immunoradiometric assay. Fluorescent in situ hybridization (FISH) did not demonstrate the microdeletion of chromosome 22q11, which is responsible for velo-cardio-facial syndrome or DiGeorge syndrome. The lymphocytes responded normally to T-cell mitogens. He was diagnosed with idiopathic hypoparathyroidism. Carbamazepine (100
0387-7604/00/$ - see front matter q 2000 Elsevier Science B.V. All rights reserved. PII: S 0387-760 4(00)00180-7
450
H. Hattori, T. Yorifuji / Brain & Development 22 (2000) 449±450
ism [2]. The seizure occurs in infants from 2 weeks to 6 months of age. Paroxysmal kinesigenic choreoathetosis is known to occur secondary to hypoparathyroidism with basal ganglia calci®cations [3±8]. Normalization of the serum calcium level results in disappearance of dyskinetic attacks in such patients. However, the attacks can be suppressed by an anticonvulsant alone without correcting hypocalcemia [6,7], as was seen in our patient. This patient's clinical features were phenotypically indistinguishable from those of ICCA syndrome, i.e. a phenocopy caused by an organic lesion. The only difference was that his ®rst seizure occurred at age 2.5 months, instead of 3±12 months as observed in ICCA syndrome. Lack of a family history less favors the diagnosis of ICCA syndrome. However, it would be dif®cult to establish its genetic aspect, since the syndrome is inherited with incomplete penetrance and may occur sporadically. References
Fig. 1. Computed tomography showing prominent symmetric calci®cations in the basal ganglia.
mg/day) was given ®rst, and this completely suppressed the dystonic attacks. He then received 1a-hydroxyvitamin D3, which normalized the serum calcium level in two months. Carbamazepine was discontinued. The patient has been doing well on the vitamin D medication and is a good basketball player on the school team. The dystonic attacks have not recurred in the past 4 years. 3. Discussion Various neurological abnormalities are observed in patients with hypoparathyroidism. Infantile convulsions can be the ®rst manifestation of idiopathic hypoparathyroid-
[1] Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889±898. [2] Whyte MP, Weldon VV. Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. J Pediatr 1981;99:608±611. [3] Arden F. Idiopathic hypoparathyroidism. Med J Aust 1953;2:217±219. [4] Tabaee-Zadeh MJ, Frame B, Kapphahn K. Kinesiogenic choreoathetosis and idiopathic hypoparathyroidism. N Engl J Med 1972;286:762± 763. [5] Christiansen NJB, Hansen PF. Choreiform movements in hypoparathyroidism. N Engl J Med 1972;287:569±570. [6] Kato H, Kobayashi K, Kohari S, Okita N, Iijima K. Paroxysmal kinesigenic choreoathetosis and paroxysmal dystonic choreoathetosis in a patient with familial idiopathic hypoparathyroidism. Tohoku J Exp Med 1987;151:233±239. [7] Barabas G, Tucker SM. Idiopathic hypoparathyroidism and paroxysmal dystonic choreoathetosis. Ann Neurol 1988;24:585. [8] Micheli F, Pardal MF, Parera IC, Giannaula R. Idiopathic hypoparathyroidism and paroxysmal kinesigenic choreoathetosis. Ann Neurol 1989;26:415.