The Prevalence and Predictive Factors of Painful Tonic Spasm in Patients with Neuromyelitis Optica Spectrum Disorder (NMOSD)

Background: Painful tonic spasm (PTS) is a complication frequently observed in patients with neuromyelitis optica spectrum disorder (NMOSD). Objective: To identify the prevalence of PTS, compare the factors associated with the occurrence of PTS, define the characteristics of PTS, and correlate the medication and prognostic factors with good recovery from PTS in patients with NMOSD. Materials and Methods: A retrospective study was performed in patients with definite NMOSD in the Prasat Neurological Institute between January 1, 2014 and December 31, 2018. The prevalence and characteristics of PTS were explored. The characteristics and factors associated with the occurrence of PTS were investigated. Moreover, the factors associated with PTS recovery and pain medications were further analyzed in the present study. Results: The prevalence of PTS in patients with NMOSD was 37.81%. The factors associated with the occurrence of PTS were the presence of acute myelitis (p=0.002, OR 39.00, 95% CI 3.89 to 391.23), and tobacco use (p=0.048, OR 13.38, 95% CI 1.02 to 175.52). In the subgroup analyses of the factors associated with PTS recovery, plasma exchange (p=0.007, OR 24.70, 95% CI 2.43 to 251.57), and Expanded Disability Status Scale range 1.0 to 4.5 (p=0.008, OR 6.92, 95% CI 1.67 to 28.65) were related to the recovery from PTS. While non-recovery was correlated with older age at last visit (p=0.013, OR 1.09, 95% CI 1.02 to 1.17) and longer segments of cord lesions (p=0.016, OR 1.21, 95% CI 1.04 to 1.42). Conclusion: The present study supports that PTS is one of the common complications in patients with NMOSD in Thailand. The presence of acute myelitis and the tobacco use are associated with the presence of PTS. Plasma exchange treatment in the acute phase of NMOSD may be associated with good recovery from PTS, and longer segments of spinal cord lesions is correlated with poor recovery outcomes. The control of these factors may prevent the occurrence of PTS or at least facilitate the recovery from PTS in these patients. Keywords: Neuromyelitis optica spectrum disorder (NMOSD), Painful tonic spasm (PTS)

Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene

Hyperekplexia is an exaggerated startle to external stimuli associated with a generalised increase in tone seen in neonates with both sporadic and genetic predisposition. This is an uncommon neurological entity that is misdiagnosed as seizure. A 28-days-old infant was admitted to us with characteristic intermittent generalised tonic spasm being treated as a seizure disorder. The infant had characteristic stiffening episode, exaggerated startle and non-habituation on tapping the nose. Hyperekplexia was suspected and confirmed by genetic testing (mutation in the β subunit of glycine was found). Initial improvement was seen with the use of clonazepam, which was not sustained. At the age of 4.5 years, the child is still having neurobehavioural issues like hyperactivity and sensory hyper-responsiveness. Usually, hyperekplexia is benign in nature. We report a case of hyperekplexia with non-sense mutation in the β subunit of GlyR gene having abnormal neurodevelopmental findings at 4.5 years.

A Neonate with Exaggerated Startle and Tonic Spasms

Hyperekplexia is a rare, potentially treatable inherited disorder of glycinergic neurotransmission, which is characterized by neonatal onset exaggerated startle response to somatosensory, auditory stimuli, and episodic tonic spasm. Prolonged tonic spasms can be life-threatening and associated with apnea and bradycardia. Awareness about this condition avoids misdiagnosis such as tonic seizures and epilepsy. We describe a term newborn with episodic tonic stiffness mistaken for seizures. Classical exaggerated startle reaction, positive head retraction response to glabellar tap, and characteristic video electroencephalogram confirmed the diagnosis.

Hyperekplexia in a neonate: a seizure mimicker

Hyperekplexia is an exaggerated startle to external stimuli associated with generalized increase in tone seen in a normal newborn with both sporadic as well as genetic predisposition. This is an uncommon neurological entity that is often confused with seizure in infancy. To date about 150 cases have been reported in the literature. We report a 6-week-old infant with characteristic intermittent generalized tonic spasm misdiagnosed as seizure disorder and was on phenobarbitone. With characteristic stiffening episode and exaggerated startle without habituation on tapping the nose we came to a clinical diagnosis of Hyperekplexia or Stiff baby syndrome or Startle disease. The child was started on Clonazepam to which he responded remarkably with decreased startle reflex. The aim of this case reporting is to through insight to this disease entity when we see an intermittent hypertonic infant.

An Undiagnosed Case of Hypothalamic Hamartoma with a Rare Presentation

Background. Hypothalamic hamartomas (HHs) are rare tumor-like malformations that may present with complex partial seizures refractory to anticonvulsants in adulthood. The condition may be misdiagnosed because of rarity. Case Presentation. We report a 25-year-old man with complaint of seizures presented by falling, tonic spasm of limbs, oral automatism, vocalization, and hypermotor activities. His seizures started at the age of one month and presented as eye deviation and upper limbs myoclonic jerk, followed by frequent seizures with variable frequency. The patient had delayed developmental milestones and was mentally retarded. He was hospitalized and underwent video-EEG monitoring and neuroimaging, and the diagnosis of HH was made. The patient became candidate for surgery after that. Conclusion. In this case, the underlying etiology of seizures was diagnosed after 25 years. HH is a rare condition and neurologists may encounter very small number of these cases during their practice. Therefore, they should consider it in patients who present with suspected signs and symptoms.

Menilai Kesulitan Belajar Peserta Didik akibat Speech Disorder

Speech disorder is one of the factors that causes learning difficulties of students because this disturbance will impede the communication and familiarization process in their learning community. Speech disorder not only causes disharmony in themselves but also brings negative influence in their learning activities, which in the long run will cause certain difficulties in achieving satisfactory academic performance. Speech disorder in commonly marked by some subtitution symtoms, distortion, omission, clonic spasm dan tonic spasm, which are caused by heredity or inappropriate treatment by people living surrounding the students. Currative effort can be done integratively both psychis therapy and physical medication in order to improve students harmonization as a prerequisite for learning activities.