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Doi:10.1016/j.pediatrneurol.2007.06.025

Treatment of Drop
Introduction
First described independently by Coffin in 1966 and by Attacks in Coffin-
Lowry in 1971, Coffin-Lowry syndrome is a well-definedclinical entity classically associated with moderate to Lowry Syndrome
severe mental retardation, characteristic facial features,skeletal deformities, and tapering fingers in males. Fe-males are much more mildly and variably affected The With the Use of
inheritance pattern is X-linked. The gene locus wasmapped to Xp22.2, and mutations were identified in Sodium Oxybate
affected patients in the RSK-2 gene, a growth factor-regulated protein kinase A characteristic paroxysmal disorder was described in Navasuma Havaligi, MD,
up to 10% patients with Coffin-Lowry syndrome, charac- Chandra Matadeen-Ali, MD,
terized by a sudden loss of muscle tone induced by Divya S. Khurana, MD, Harold Marks, MD,
unexpected tactile or auditory stimuli These eventswere termed cataplexy, nonepileptic collapses with atonia, and Sanjeev V. Kothare, MD
exaggerated startle responses, hyperekplexia, and stimu-lus-induced drop episodes.
Various therapies were undertaken for these drop at- Coffin-Lowry syndrome is a well-defined clinical entity
tacks, including clonazepam, tiagabine, felbamate, selec- classically associated with moderate to severe mental
tive serotonin reuptake inhibitors, and tricyclics, with retardation, characteristic facial features, skeletal defor-
variable improvement We report on a 22-year-old man mities, and tapering fingers. A characteristic paroxysmal
with Coffin-Lowry syndrome with stimulus-induced drop disorder was described in up to 10% patients with
episodes, who failed therapy with clonazepam, several Coffin-Lowry syndrome, characterized by sudden loss of
antiepileptic drugs, and escitalopram (a selective serotonin muscle tone induced by unexpected tactile or auditory
reuptake inhibitor), and was given a trial of sodium stimuli. These events were given several names, including
oxybate with complete resolution of stimulus-induced cataplexy, nonepileptic collapses with atonia, exaggerated
startle responses, hyperekplexia, and stimulus-induced
drop episodes. Various therapies were undertaken for
these drop attacks, including clonazepam, tiagabine, fel-

Case Report
bamate, selective serotonin reuptake inhibitors, and tri-
cyclics, with variable improvement. We report on a

A 22-year-old man, born to nonconsanguineous parents as a full-term 22-year-old man with Coffin-Lowry syndrome with stim-
uncomplicated delivery, was found during childhood to have develop- ulus-induced drop episodes, who failed therapy with
mental delay. There was no family history of neurologic illness. Based onhis dysmorphic features (hypertelorism, pugilistic nose, coarse facies, clonazepam, several antiepileptic drugs, and escitalo-
large ears, everted lower lip, open mouth, kyphoscoliosis, and fleshy pram, and who was given a trial of sodium oxybate with
hands with tapering fingers) and an extensive metabolic workup which complete resolution of the drop attacks.
2007 by
produced negative results, he was clinically diagnosed as manifesting Elsevier Inc. All rights reserved.
Coffin-Lowry syndrome at 9 years of age. Genetic testing performed in2006 by single-strand conformation polymorphism analysis of exon 22 ofthe RSK-2 gene did not reveal a mutation. Since age 3 years, he has had Havaligi N, Matadeen-Ali C, Khurana DS, Marks H, Kothare generalized tonic-clonic seizures, atypical absences, and infrequent SV. Treatment of drop attacks in Coffin-Lowry syndrome myoclonic jerks. Electroencephalograms disclosed frequent, bilateral, with the use of sodium oxybate. Pediatr Neurol 2007;37: central sharp waves along with diffuse background slowing. The seizureswere well-controlled by valproate and clonazepam. At 12 years of age, he began to experience tactile- and auditory-induced episodes of posturalloss of tone without loss of consciousness. These episodes increased in From the Division of Neurology, Department of Pediatrics, St.
Christopher’s Hospital for Children, Drexel University College of Dr. Kothare; Division of Neurology, Department of Pediatrics; St.
Medicine, Philadelphia, Pennsylvania.
Christopher’s Hospital for Children; Erie Avenue at Front Street;Philadelphia, PA 19134.
E-mail: skothare@drexelmed.eduReceived May 3, 2007; accepted June 27, 2007.
2007 by Elsevier Inc. All rights reserved.
Havaligi et al: Drop Attacks in Coffin-Lowry Syndrome doi:10.1016/j.pediatrneurol.2007.06.025 ● 0887-8994/07/$—see front matter frequency and intensity over time, and occurred multiple times daily.
Sodium oxybate also known as ␥-hydroxybutyrate, is a Video-electroencephalogram monitoring during several of these episodes highly regulated and controlled substance currently ap- did not reveal abnormalities in association with these events. Several proved since 2002 in the United States for the treatment of other medications, including phenobarbital, levetiracetam, phenytoin,topiramate, lamotrigine, and high-dose escitalopram, were unsuccessful cataplexy in association with narcolepsy It increases in controlling these episodes. A sleep study showed poor sleep efficiency, slow-wave sleep, decreases nighttime awakenings and sleep-fragmentation with alpha intrusion, and decreased rapid eye move- arousals, and improves sleep efficiency. In adults, it ment sleep. The patient was not cooperative enough to perform a multiple reduces the frequency of cataplexy within 2-4 weeks of sleep latency test. The family refused a spinal tap that had been requested initiating therapy. Adverse effects include dizziness, nau- to assay hypocretin levels in the cerebrospinal fluid. Sodium oxybate wasgradually introduced at weekly increments, until a final dose of 4.5 g at sea, vomiting, headache, enuresis, anxiety, leg cramps, 10 pm and 2 am was reached. There was complete cessation of these drop somnambulism, night terrors, sleep apnea, and early morn- attacks within 1 month of achieving the full dose. The patient has been ing awakenings. Sodium oxybate appears to be efficacious well-controlled at this dose for 1 year, with no further events. The patient in treating the drop attacks associated with Coffin-Lowry experienced vomiting as a side effect of the medication, which was syndrome, but it is unclear how it does so. The mechanism controlled with the use of ondansetron.
may be similar to that involved in the treatment ofcataplexy in narcolepsy. Further studies are necessary tovalidate our observation and to further characterize the Discussion
treatment of stimulus-induced drop episodes in Coffin- We present the first case report of successful treatment of stimulus-induced drop episodes in Coffin-Lowry syn-drome with the use of sodium oxybate. The patient had References
typical features of Coffin-Lowry syndrome, although a Fryns JR, Vinken L, Van der Berghe H. The Coffin-Lowry
mutation in the RSK-2 gene was not detected. Failure to identify a mutation may be related to locus heterogeneity.
Trivier E, De Cesare D, Jacquot S, et al. Mutations in the kinase
Rsk-2 associated with Coffin-Lowry syndrome. Nature 1996;384: In a study of 250 cases of Coffin-Lowry syndrome screened by single-strand conformation polymorphism Stephenson John BP, Hoffman FC, Russell Aline JC, et al. The
analysis, a mutation was detected in only one third of the movement disorders of Coffin-Lowry syndrome. Brain Dev 2005;27: patients Lack of electroencephalogram abnormalities during these episodes excluded epileptic drop attacks, Nelson GB, Hahn JS. Stimulus-induced drop episodes in Coffin-
Lowry syndrome. Pediatrics 2003;111:e197-202.
while reduced postural tone, as compared with the in- O’Riordan S, Patton M, Schon F. Treatment of drop episodes in
creased tone induced by various stimuli during these Coffin-Lowry syndrome. J Neurol 2006;253:109-10.
episodes, along with a lack of response to clonazepam, Zeniou M, Pannetier S, Fryns JP, Hanauer A. Unusual splice-site
rendered hyperekplexia an unlikely possibility. Unlike mutations in the RSK2 gene and suggestions of genetic heterogeneity in narcolepsy with cataplexy, these episodes were usually not Coffin-Lowry syndrome. Am J Hum Genet 2002;70:1421-33.
Xyrem International Study Group. Further evidence support-
precipitated by emotional triggers We thus endorse the ing the use of sodium oxybate for the treatment of cataplexy: A nomenclature “stimulus-induced drop episodes” for these double-blind, placebo-controlled study in 228 patients. Sleep Med

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Therapeutic intervention – an option in the case management AETAP Conference (Association of European Threat Assessment Professionals) April 20-23, 2009, Berlin, Germany Werner Tschan, M.D. http.//www.threatmanagement.chAbstractTherapeutic intervention – an option in case managementTherapeutic interventions in violent and/or threatening behavior are based on a comprehensive assessment. Th

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