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Canavan Disease: Clinical and laboratory profile from Southern part of India
Annals of Indian Academy of Neurology ( IF 1.7 ) Pub Date : 2021-05-01 , DOI: 10.4103/aian.aian_386_20 Vykuntaraju K Gowda 1 , Narmadham K Bharathi 2 , Jamunashree Bettaiah 1 , Maya Bhat 3 , Sanjay K Shivappa 2
Background: Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population. However, prevalence and presentation of the disease in India is largely unknown; hence, we are reporting this series. Methods: This is a retrospective chart review in a tertiary care hospital from January 2015 to March 2020. CD was confirmed by elevated N- acetyl aspartate (NAA) levels in urinary gas chromatography and mass spectrometry (GCMS)/increased NAA peak in magnetic resonance spectroscopy (MRS) and/or detection of mutations. The data was extracted in a predesigned proforma and analyzed. Results: We had 12 children with mean age at presentation being 6.8 months (range 3 months to 10 months.). Males were more commonly affected (83.3%, n = 10). Ten children (83.3%) were born out of consanguineous parentage. All of them had visual impairment and pyramidal signs. Seizures were noted in five (42%) children. Normal head size in three (25%) and microcephaly in two (16.66%) cases were noted. Magnetic resonance imaging (MRI) revealed signal changes with bilateral symmetric T2W white matter (WM) hyperintensities in subcortical U fibers in all cases. MRS was done in ten children, all of which showed increased NAA peak. Increased level of NAA in urinary GCMS was noted in six out of eight children. Six cases had homozygous pathogenic variants in ASPA gene. Antenatal diagnosis helped in prevention of recurrence in three families. Conclusion: Urinary NAA and MRS showing NAA peak are useful in diagnosis of CD. Macrocephaly is not a necessary finding to diagnose CD. Early diagnosis helps in genetic counseling and prevention of subsequent conceptions.
中文翻译：
Canavan 病：印度南部的临床和实验室概况
背景： Canavan 病 (CD) 是一种常染色体隐性遗传的脑白质营养不良。它影响了犹太人口中 6,400 到 13,500 人中的一个。然而，这种疾病在印度的流行和表现在很大程度上是未知的。因此，我们正在报道这个系列。方法：这是 2015 年 1 月至 2020 年 3 月在一家三级医院进行的回顾性图表回顾。通过尿气相色谱和质谱 (GCMS) 中 N-乙酰天冬氨酸 (NAA) 水平升高/磁共振中 NAA 峰升高证实 CD光谱（MRS）和/或突变检测。数据以预先设计的形式提取并进行分析。结果：我们有 12 名儿童，平均年龄为 6.8 个月（范围为 3 个月至 10 个月）。男性更常见（83.3%，n = 10）。10名儿童（83.3%）是近亲出生的。他们都有视力障碍和锥体征。五名（42%）儿童出现癫痫发作。注意到三例 (25%) 的正常头部大小和两例 (16.66%) 的小头畸形。磁共振成像 (MRI) 显示所有病例中皮质下 U 纤维中双侧对称 T2W 白质 (WM) 高信号的信号变化。10名儿童进行了MRS，均显示NAA峰值升高。八分之六的儿童注意到尿液 GCMS 中 NAA 水平升高。6例在ASPA中有纯合致病变异基因。产前诊断有助于预防三个家庭的复发。结论：尿NAA和MRS显示NAA峰有助于诊断CD。大头畸形不是诊断 CD 的必要发现。早期诊断有助于遗传咨询和预防随后的受孕。
更新日期：2021-05-01
Annals of Indian Academy of Neurology ( IF 1.7 ) Pub Date : 2021-05-01 , DOI: 10.4103/aian.aian_386_20 Vykuntaraju K Gowda 1 , Narmadham K Bharathi 2 , Jamunashree Bettaiah 1 , Maya Bhat 3 , Sanjay K Shivappa 2
Affiliation
Background: Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population. However, prevalence and presentation of the disease in India is largely unknown; hence, we are reporting this series. Methods: This is a retrospective chart review in a tertiary care hospital from January 2015 to March 2020. CD was confirmed by elevated N- acetyl aspartate (NAA) levels in urinary gas chromatography and mass spectrometry (GCMS)/increased NAA peak in magnetic resonance spectroscopy (MRS) and/or detection of mutations. The data was extracted in a predesigned proforma and analyzed. Results: We had 12 children with mean age at presentation being 6.8 months (range 3 months to 10 months.). Males were more commonly affected (83.3%, n = 10). Ten children (83.3%) were born out of consanguineous parentage. All of them had visual impairment and pyramidal signs. Seizures were noted in five (42%) children. Normal head size in three (25%) and microcephaly in two (16.66%) cases were noted. Magnetic resonance imaging (MRI) revealed signal changes with bilateral symmetric T2W white matter (WM) hyperintensities in subcortical U fibers in all cases. MRS was done in ten children, all of which showed increased NAA peak. Increased level of NAA in urinary GCMS was noted in six out of eight children. Six cases had homozygous pathogenic variants in ASPA gene. Antenatal diagnosis helped in prevention of recurrence in three families. Conclusion: Urinary NAA and MRS showing NAA peak are useful in diagnosis of CD. Macrocephaly is not a necessary finding to diagnose CD. Early diagnosis helps in genetic counseling and prevention of subsequent conceptions.
中文翻译：
Canavan 病：印度南部的临床和实验室概况
背景： Canavan 病 (CD) 是一种常染色体隐性遗传的脑白质营养不良。它影响了犹太人口中 6,400 到 13,500 人中的一个。然而，这种疾病在印度的流行和表现在很大程度上是未知的。因此，我们正在报道这个系列。方法：这是 2015 年 1 月至 2020 年 3 月在一家三级医院进行的回顾性图表回顾。通过尿气相色谱和质谱 (GCMS) 中 N-乙酰天冬氨酸 (NAA) 水平升高/磁共振中 NAA 峰升高证实 CD光谱（MRS）和/或突变检测。数据以预先设计的形式提取并进行分析。结果：我们有 12 名儿童，平均年龄为 6.8 个月（范围为 3 个月至 10 个月）。男性更常见（83.3%，n = 10）。10名儿童（83.3%）是近亲出生的。他们都有视力障碍和锥体征。五名（42%）儿童出现癫痫发作。注意到三例 (25%) 的正常头部大小和两例 (16.66%) 的小头畸形。磁共振成像 (MRI) 显示所有病例中皮质下 U 纤维中双侧对称 T2W 白质 (WM) 高信号的信号变化。10名儿童进行了MRS，均显示NAA峰值升高。八分之六的儿童注意到尿液 GCMS 中 NAA 水平升高。6例在ASPA中有纯合致病变异基因。产前诊断有助于预防三个家庭的复发。结论：尿NAA和MRS显示NAA峰有助于诊断CD。大头畸形不是诊断 CD 的必要发现。早期诊断有助于遗传咨询和预防随后的受孕。
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