Hyperekplexia in neonates

Abstract

(Postgrad Med J 2001;77:570-572)

Molybdenum Cofactor Deficiency Presenting as Neonatal Hyperekplexia: A Clinical, Biochemical and Genetic Study

“…As in some previous reports, we found the manoeuvre of forcefully flexing head and legs toward the trunk to be life-saving. The preceding clinical findings fit clearly the ones previously described in cases of neonatal hyperekplexia [22]. At variance with many reports on neonatal hyperekplexia, the clinical improvement after starting clonazepam was very limited in our patient.…”

Molybdenum Cofactor Deficiency Presenting as Neonatal Hyperekplexia: A Clinical, Biochemical and Genetic Study

“…As in some previous reports, we found the manoeuvre of forcefully flexing head and legs toward the trunk to be life-saving. The preceding clinical findings fit clearly the ones previously described in cases of neonatal hyperekplexia [22]. At variance with many reports on neonatal hyperekplexia, the clinical improvement after starting clonazepam was very limited in our patient.…”

Efficient recombinant hepatitis E virus vaccine: Mission accomplished?

“…The abnormal and characteristic startle response was evident only from the fourth week of life. There are several reports of apnea and sudden infant death in infancy in the families of hyperekplectic patients 8–10. However, no apnea or respiratory difficulties were observed in our patient even during bouts of massive myoclonus.…”

“…Hyperekplexia, which is also known as hereditary startle disease, is a rare neurogenetic disorder that is characterized by an exaggerated startle response and neonatal hypertonia 4, 5. After its first description in 1958 by Kirstein and Silfverskiold,6 there have been sporadic reports of affected families and patients 7–9. Our infant had the major nonfamilial form of hyperekplexia.…”

A Case of Major Form Familial Hyperekplexia: Prenatal Diagnosis and Effective Treatment With Clonazepam

“…All affected family members presented with the classical clinical phenotype (Table 2). 14 Molecular analysis had identified point mutation K276E in all of them, which had never previously been described in the literature. Prenatal diagnosis in our patient was possible thanks to this identification.…”

Molybdenum Cofactor Deficiency Presenting as Neonatal Hyperekplexia: A Clinical, Biochemical and Genetic Study

“…As in some previous reports, we found the manoeuvre of forcefully flexing head and legs toward the trunk to be life-saving. The preceding clinical findings fit clearly the ones previously described in cases of neonatal hyperekplexia [22]. At variance with many reports on neonatal hyperekplexia, the clinical improvement after starting clonazepam was very limited in our patient.…”

Efficient recombinant hepatitis E virus vaccine: Mission accomplished?

“…The abnormal and characteristic startle response was evident only from the fourth week of life. There are several reports of apnea and sudden infant death in infancy in the families of hyperekplectic patients 8–10. However, no apnea or respiratory difficulties were observed in our patient even during bouts of massive myoclonus.…”

“…Hyperekplexia, which is also known as hereditary startle disease, is a rare neurogenetic disorder that is characterized by an exaggerated startle response and neonatal hypertonia 4, 5. After its first description in 1958 by Kirstein and Silfverskiold,6 there have been sporadic reports of affected families and patients 7–9. Our infant had the major nonfamilial form of hyperekplexia.…”

A Case of Major Form Familial Hyperekplexia: Prenatal Diagnosis and Effective Treatment With Clonazepam

“…All affected family members presented with the classical clinical phenotype (Table 2). 14 Molecular analysis had identified point mutation K276E in all of them, which had never previously been described in the literature. Prenatal diagnosis in our patient was possible thanks to this identification.…”

Molybdenum Cofactor Deficiency Presenting as Neonatal Hyperekplexia: A Clinical, Biochemical and Genetic Study

“…As in some previous reports, we found the manoeuvre of forcefully flexing head and legs toward the trunk to be life-saving. The preceding clinical findings fit clearly the ones previously described in cases of neonatal hyperekplexia [22]. At variance with many reports on neonatal hyperekplexia, the clinical improvement after starting clonazepam was very limited in our patient.…”

Efficient recombinant hepatitis E virus vaccine: Mission accomplished?

“…The abnormal and characteristic startle response was evident only from the fourth week of life. There are several reports of apnea and sudden infant death in infancy in the families of hyperekplectic patients 8–10. However, no apnea or respiratory difficulties were observed in our patient even during bouts of massive myoclonus.…”

“…Hyperekplexia, which is also known as hereditary startle disease, is a rare neurogenetic disorder that is characterized by an exaggerated startle response and neonatal hypertonia 4, 5. After its first description in 1958 by Kirstein and Silfverskiold,6 there have been sporadic reports of affected families and patients 7–9. Our infant had the major nonfamilial form of hyperekplexia.…”

A Case of Major Form Familial Hyperekplexia: Prenatal Diagnosis and Effective Treatment With Clonazepam

“…All affected family members presented with the classical clinical phenotype (Table 2). 14 Molecular analysis had identified point mutation K276E in all of them, which had never previously been described in the literature. Prenatal diagnosis in our patient was possible thanks to this identification.…”