• Title/Summary/Keyword: Respiratory disorder

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Late-onset drug resistant epilepsy in an adolescent with Allan-Herndon-Dudley syndrome

  • Soyoung Park;Young-Lim Shin;Go Hun Seo;Yong Hee Hong
    • Journal of Genetic Medicine
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    • v.21 no.1
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    • pp.31-35
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    • 2024
  • Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

Prevalence of Voiding Dysfunction and Constipation in Children with Attention Deficit Hyperactivity Disorder (주의력결핍 과잉운동장애 소아에서 배뇨장애와 변비의 유병률)

  • Kim, Joon Young;Lee, Eun Seob;Bang, Ji Seok;Oh, Yeon Joung;Lee, Yong Ju;Sung, Tae-Jung;Lee, Kon-Hee;Lee, Jung Won
    • Childhood Kidney Diseases
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    • v.18 no.2
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    • pp.71-76
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    • 2014
  • Purpose: Attention deficit hyperactivity disorder (ADHD) has been associated with impairments in frontal inhibitory function and the catecholaminergic system. ADHD is diagnosed in 3-5% of children. Children with ADHD seem develop various forms of urinary problems such as nocturnal enuresis, dysfunctional voiding, and diurnal incontinence. However, no data exist to confirm the presence of these problems in Korean children with ADHD. We investigated the clinical findings of voiding dysfunction in children with ADHD. Methods: Between October 2009 and March 2011, a total of 63 children (33 with ADHD, 30 with an upper respiratory infection, as a control group) were enrolled. ADHD was diagnosed using the diagnostic and statistical manual of mental disorders (DSM)-IV criteria. A comprehensive survey of voiding and defecation was administered. Results: The patient group included 28 boys and 5 girls; the control group comprised 20 boys and 10 girls. The mean age was $9.09{\pm}2.8$ years in the ADHD group and $8.58{\pm}3.1$ years in the control group. Children with ADHD had a statistically significantly higher incidence of urgency (P =0.017), urge incontinence (P =0.033), and constipation (P =0.045). There was no significant difference in the incidence of straining, intermittency, holding maneuvers, or nocturnal enuresis. Conclusion: Children with ADHD in Korea have significantly higher rates of urgency, urge incontinence, and constipation than those without ADHD.

A Case of Childhood Obstructive Sleep Apnea Syndrome with Co-morbid Attention Deficit Hyperactivity Disorder Treated with Continuous Positive Airway Pressure Treatment (지속적(持續的) 상기도(上氣道) 양압술(陽壓術)을 시행(施行)하여 치료효과(治療效果)를 본 주의력(注意力) 결핍(缺乏).과잉(過剩) 운동장애(運動障碍)를 동반(同伴)한 소아기(小兒基) 폐쇄성(閉鎖性) 수면무호흡증(睡眠無呼吸症) 1례(例))

  • Sohn, Chang-Ho;Shin, Min-Sup;Hong, Kang-E;Jeong, Do-Un
    • Sleep Medicine and Psychophysiology
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    • v.3 no.1
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    • pp.85-95
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    • 1996
  • Obstructive sleep apnea syndrome(OSAS) in childhood is unique and different n-om that in adulthood in several aspects, including pathophysiology, clinical features, diagnostic criteria, complications, management, and prognosis. Characteristic features of childhood OSAS in comparison with the adult form are the variety of severe complications such as developmental delay, more prominent behavioral and cognitive impairments, vivid cardiovascular symptoms, and increased death risk, warranting a special attention to the possible diagnosis of OSAS in children who snore. However, the childhood OSAS is often neglected and unrecognized. We, therefore, report a case of very severe OSAS in a 5-year-old boy who was sucessfully treated with continuous positive airway pressure(CPAP) treatment. Interestingly, the patient was comor-bid with the attention deficit hyperactivity disorder. Prior to the initial visit to us, adenotonsillectomy had been done at the age of 4 with no significant improvement of apneic symptoms and heavy snoring. On the initial diagnostic procedures, marked degree of snoring was audible even in the daytime wake state and the patient was observed to be very hyperactive. Increased pulmonary vascularity with borderline cardiomegaly was noted on chest X-ray. The baseline polysomnography revealed that the patient was very sleep-apneic and snored very heavily, with the respiratory disturbance index(RDI) of 46.9 per hour of sleep, the mean SaO2 of 78.8%, and the lowest SaO2 of 40.0%(the lowest detectable oxygen level by the applied oxymeter). The second night polysomnography was done for CPAP titration and the optimal pressure turned out to be $8.0\;cmH_2O$. The applied CPAP treatment was well tolerated by the patient and was found to be very effective in alleviating heavy snoring and severe repetitive sleep apneas. After 18 months of the CPAP treatment, the patient was followed up with nocturnal polysomnography(baseline and CPAP nights) and clinical examination. Sleep apneas were still present without CPAP on the baseline night. However, the severity of OSAS was significantly decreased(RDI of 15.7, mean SaO2 of 96.2%, and the lowest SaO2 of 83.0%), compared to the initial polysomnographic findings before initiation of long-term CPAP treatment. Wechsler intelligence tests done before and after the CPAP treatment were compared with each other and surprising improvement of intelligence(total 9 points, performance 16 points) was noted. Clinically he was found to be markedly improved in his attention deficit hyperactive behavior after CPAP treatment, but with minimal change of TOVA(test of variables of attention) scores except conversion of reaction time score into normal range. On the chest X-ray taken after 18 months of CPAP application, the initial cardiopulmonary abnormalities were not found at all. We found that the CPAP treatment in a young child is very effective, safe, and well-tolerated and also improves the co-morbid attention deficit hyperactive symptoms. Overall, the growth and development of the child has been facilitated with the long-term use of CPAP. Cardiovascular complications induced by OSAS have been also normalized with CPAP treatment. We suggest that early diagnosis and active treatment intervention of OSAS in children are crucial in preventing and ameliorating possible serious complications caused by repetitive sleep apneas and consequent hypoxic damage during sleep.

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Usefulness of the Chin Press Maneuver in Assessing the Severity of Obstructive Sleep Apnea Syndrome (폐쇄성 수면무호흡증후군의 진단에 있어 턱 압박술의 유용성)

  • Kim, Moo-Jin
    • Sleep Medicine and Psychophysiology
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    • v.8 no.1
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    • pp.22-29
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    • 2001
  • Objectives: Obstructive sleep apnea syndrome (OSA) is a moderately prevalent disorder. Even though much progress has been made in the diagnosis of this disorder, the cost-effectiveness of nocturnal polysomnography is undertermined and physicians and patients are still hesitant to undergo this procedure. The authors wanted to see the validity of chin press/tongue curl maneuver in estimating the severity of OSA which is easy to measure and was originally proposed by Simmons etc. by looking at the correlations between this score and the conventional respiratory disturbance indices. Methods: Forty-three sleep-related breathing disorder patients (28 OSA patients and 15 upper airway resistance syndrome (UARS) patients) who underwent investigation for posssible OSA were studied. Two conventional indices of OSA (apnea/hypopnea index (AHI) and oxygen saturation dip rate (SaO2 dips)), four other sleep variables (lowest SaO2, % of time with SaO2<90% (%SaO2 <90), % of sleep stage 1, mean length of SaO2 dips) and the score of Epworth sleepiness scale (ESS) were compared with the chin press score (CPS) which was newly revised by the author and ranges from 0 to 6. Results: The age of subjects was $45.95{\pm}12.47$ (range 14-76) and their average BMI was $25.98{\pm}3.61$ (range 19.65-37.64). There were no significant differences in age, sex and BMI except repiratory disturbance indices and ESS (p<0.05) between OSA and UARS group. Grouped median CPS of the all subjects was 4.14 (range 1-6). There was a remarkable relationship between CPS and diagnosis category (Likelihood Ratio $X^2$ test; $X^2$=17.41, df=5, p=0.004) and measures of association (Somers' $d=0.65{\pm}0.12$, t=4.83, p=0.000) indicated that CPS increased when the diagnosis changed from UARS to OSA. Spearman's rank correlations between CPS and SaO2 dips (R=0.83), between CPS and AHI (R=0.77) were good (p<0.001). Other variables except mean length of SaO2 dips showed good correlations with CPS as well (p<0.05). Regression analysis indicated that when CPS is 3 there is a provability of 0.35 to have AHI of less than 5. Conclusion: Chin press scores that can be measured easily is well correlation with the conventional sleep apnea indices. They may therefore provide a useful guide in diagnosing obstructive sleep apnea synrome.

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Serum Albumin Concentrations and Clinical Disorders by Gestational Ages in Preterm Babies (미숙아에서 재태 연령에 따른 혈청 알부민치와 임상증상과의 관계)

  • Lee, Mia;Yun, Soo;Lim, Baek Keun;Kim, Jong Soo
    • Clinical and Experimental Pediatrics
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    • v.48 no.2
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    • pp.148-153
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    • 2005
  • Purpose : The aim of this study was to determine the reference ranges of serum albumin levels depending on the gestational ages of preterm infants. We also intended to compare the mean serum albumin levels between groups of preterm infants that did not develop clinical disorders later, and groups that did develop clinical disorders such as respiratory distress syndrome, intraventricular hemorrhage, retinopathy of prematurity, apnea and bronchopulmonary dysplasia. We also examined the significance of serum albumin as a predictor for the development of clinical disorders. Methods : The records of 208 neonates with gestational ages from 23 weeks to 41 weeks were reviewed retrospectively. The mean albumin concentrations with reference ranges by gestational ages were determined. Statistics for each two of group were compared. Logistic regression analysis was used to model odd ratio, and 95 percent confidence interval as a mean of the association between predictors and outcome. Results : Serum albumin levels were at 23-24 weeks gestation was 2.36 g/dL, rising to 3.43 g/dL in full term babies. There were significant mean differences between the clinical groups and control groups for each clinical disorder such as respiratory distress syndrome, intraventricular hemorrhage, retinopathy of prematurity and apnea in premature babies of 30-36 weeks of gestation. Low serum albumin appeared to be associated with increased risks of clinical disorders. Conclusion : The normal serum albumin levels in preterm infants should be defined according to the gestational ages. Lower albumin levels increase the risks of the later development of clinical disorders, which are common in premature infants.

Clinical Characteristics of Aspergilloma (국균종의 임상적 고찰)

  • Kim, Ki-Up;Gil, Hyo-Wook;Lee, Suk-Ho;Kim, Do-Jin;Na, Moon-Jun;Uh, Soo-Taek;Kim, Yong-Hoon;Park, Choon-Sik
    • Tuberculosis and Respiratory Diseases
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    • v.52 no.1
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    • pp.46-53
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    • 2002
  • Background: Pulmonary aspergilloma is relatively common in korea. It arises from the colonization and proliferation of Aspergillus in preexisting lung parenchymal cavities, in particular tuberculosis. The most common symptom in this disorder is hemoptysis, which mayor may not be massive and life threatening. A routine chest radiography and computed tomography (CT) are the most important diagnostic procedures. A surgical resection of the aspergilloma has recently been recommended, because of the relatively low incidence of postoperative complications than in the past. A more concentrated sample of patients with aspergilloma, who either underwent a thoracotomy or tested positive for aspergillus antibodies, were reviewed. Method : The medical records of twenty-two patients with aspergilloma, who had a proven thoracotomy (9 cases), or who tested positive for the diagnostic procedure and/or aspergillus antibodies (13 cases) from January 1995 to December 2000, were reviewed retrospectively. Results : The most common underlying lung disease was a current or old healed tuberculosis, and 3 patients had cultures of mycobacterium other than tuberculosis (MOTT). The mean time until the aspergilloma was detected 5.91 years in the healed tuberculosis cases. The others cases involved a lung abscess, bronchiectasis and without lung disease. The extrapulmonary disease was alcoholism and diabetes. Hemoptysis was most common in 72.7%. A computed tomography (CT) is useful for diagnosis. The right upper lobe, especially the posterior segment, is the most common location. Bronchial artery embolization is ineffective for a long term follow-up. A lobectomy is most common in a thoracotomy, and intra-operative and post-operative complications are rare. During follow-up, the mortality rate, not from the aspergilloma but from respiratory failure, was 13.6%. Conclusion : Aspergilloma is a common cavitary lung disease, It mainly arises from tuberculosis, either current or healed, but extra-pulmonary disease including alcoholism or diabetes are other possible risk factors. Their most common problem in aspergilloma is hemoptysis. Surgery has a low risk of post-operative complications and is recommended in relatively preserved lung function or healthy patients. Medical maneuvers including embolization, and the local insertion of certain materials needs to be studied more closely.

Psychophysiological Characteristics of Insomnia Patients Measured by Biofeedback System (바이오피드백을 이용하여 측정한 불면증 환자의 정신생리적 특징)

  • Huh, Sung-Young;Lee, Jin-Seong;Kim, Sung-Gon;Kim, Ji-Hoon;Jung, Woo-Young
    • Sleep Medicine and Psychophysiology
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    • v.22 no.2
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    • pp.70-76
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    • 2015
  • Background and Objectives: Insomnia is the most prevalent sleep disorder in the general population and is considered to be a disorder of hyperarousal. The aim of this study was to measure the psychophysiological responses in insomnia patients using a biofeedback system, and to compare them with results from normal healthy subjects. Materials and Methods: Eighty patients with primary insomnia (35 males and 45 females, average age $49.71{\pm}12.91years$) and 101 normal healthy controls (64 males and 37 females, average age $27.65{\pm}2.77$) participated in this study. Electromyography (EMG), heart rate (HR), skin conductance (SC), skin temperature (ST), and respiratory rate (RR) were recorded using a biofeedback system during 5 phases (baseline, stress 1, recovery 1, stress 2, recovery 2) of a stress reactivity test, and average values were calculated. Difference in values between the two groups in each corresponding phase was analyzed with independent t-test, and change in values across phases of the stress reactivity test was analyzed with paired t-test (all two-tailed, p<0.05). Results: Compared to normal controls, insomnia patients had higher EMG in all 5 phases (baseline : $7.72{\pm}3.88{\mu}V$ vs. $4.89{\pm}1.73{\mu}V$, t = -6.06, p<0.001 ; stress 1 : $10.29{\pm}5.16{\mu}V$ vs. $6.63{\pm}2.48{\mu}V$, t = -5.84, p<0.001 ; recovery 1 : $7.87{\pm}3.86{\mu}V$ vs. $5.17{\pm}2.17{\mu}V$, t = -5.61, p<0.001 ; stress 2 : $10.22{\pm}6.07{\mu}V$ vs. $6.98{\pm}2.98{\mu}V$, t = -4.37, p<0.001 ; recovery 2 : $7.88{\pm}4.25{\mu}V$ vs. $5.17{\pm}1.99{\mu}V$, t = -5.27, p<0.001). Change in heart rate across phases of the stress reactivity test were higher in normal controls than in insomnia patients (stress 1-baseline : $6.48{\pm}0.59$ vs. $3.77{\pm}0.59$, t = 3.22, p = 0.002 ; recovery 1- stress 1 : $-5.36{\pm}0.0.59$ vs. $-3.16{\pm}0.47$, t = 2.91, p = 0.004 ; stress 2-recovery 1 : $8.45{\pm}0.61$ vs. $4.03{\pm}0.47$, t = 5.72, p<0.001 ; recovery 2-stress 2 : $-8.56{\pm}0.65$ vs. $4.02{\pm}0.51$, t = -5.31, p<0.001). Conclusion: Psychophysiological profiles of insomnia patients in a stress reactivity test were different from those of normal healthy controls. These results suggest that the sympathetic nervous system is more highly activated in insomnia patients.

Increased Regulatory T cells in Thyroid Adenocarcinoma in a Mixed Breed Dog (갑상샘 암종을 가진 개에서 조절 T 세포의 증가)

  • Kim, Jun-Hwan;Hong, Yeon-Jung;Kim, Bumseok;Kim, Yunhye;Park, Jin-Ho;Chung, Tae-Ho;Park, Chul
    • Journal of Veterinary Clinics
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    • v.30 no.6
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    • pp.482-485
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    • 2013
  • This case report describes the increment of regulatory T cells in thyroid carcinoma of a mixed breed dog compared with normal dogs. A mixed breed dog was referred for a submandibular mass and hyperthermia. Right cervical mass was detected during the physical examination and radiography identified right cervical mass suspected thyroid gland. Accurate location and size of mass was confirmed using computed tomography and 3D reconstructed images. After confirmation of mass, surgical resection was performed and evaluation of regulatory T cells in blood of this patient was performed using flow cytometric assay. The percentage of regulatory T cells was 38.28% of all CD4 (+)/CD25 (+) T cells. This result was higher than median percentage of regulatory T cells of healthy 8 beagles ($7.66{\pm}1.65%$ (p<0.01) of all CD4 (+)/CD25 (+) T cells). And masses were confirmed as giant cell thyroid carcinoma based on histopathologic examination. After surgical resection of cervical mass was performed, the owner didn't want chemotherapy. Seven days later, cervical mass came out again. And CBC showed severe leukocytosis (WBC $47.6{\times}10^3/{\mu}L$) and non-regenerative anemia (PCV 21%). Suspected pulmonic metastasis regions became more severe. Finally the dog died of severe anemia and respiratory disorder.

Humidifier disinfectant lung injury, how do we approach the issues?

  • Choi, Jihyun Emma;Hong, Sang-Bum;Do, Kyung-Hyun;Kim, Hwa Jung;Chung, Seockhoon;Lee, Eun;Choi, Jihyun;Hong, Soo-Jong
    • Environmental Analysis Health and Toxicology
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    • v.31
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    • pp.19.1-19.7
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    • 2016
  • A large portion of the Korean population has been exposed to toxic humidifier disinfectants (HDs), and considering that the majority of the victims are infants, the magnitude of the damage is expected to be considerably larger than what has currently been revealed. The current victims are voicing problems caused by various diseases, including but not limited to lung, upper respiratory tract, cardiovascular, kidney, musculoskeletal, eye, and skin diseases, etc. However, there has been difficulty in gaining validation for these health problems and identifying causal relationships due to lack of evidence proving that toxic HD is the specific causes of extrapulmonary diseases such as allergic rhinitis. Furthermore, the victims and bereaved families of the HD case have not received any support for psychological distress such as post-traumatic stress disorder, depression, feelings of injustice, and anger caused by the trauma. In addition, because the underlying mechanisms of the toxic materials within the HDs such as polyhexamethylene guanidine phosphate, poly(oxyalkylene guanidine) hydrochloride, chloromethylisothiazolinone /methylisothiazolinone have yet to be determined, the demand for information regarding the HD issue is growing. The victims of the HD cases require support that goes beyond financial aid for medical costs and living expenses. There is a desperate need for government-led integrated support centers that provide individualized support through health screenings; in other words, we need an integrated facility that provides the appropriate social support to allow the victims to recover their physical and mental health, so as to well prepare them to return to a normal life. The implementation of such a plan requires not only the close cooperation between those departments already directly involved such as the Ministry of Environment and the Ministry of Health and Welfare, but also active support on a national scale from pan-governmental consultative bodies.

A Case of End-Stage Renal Disease with Joubert Syndrome due to CEP290 Mutation (CEP290 돌연변이로 인해 발생한 Joubert 증후군 말기 신부전 1례)

  • Kim, Sung Hoon;Lee, Sang Taek;Seong, Moon-Woo;Kim, Man Jin;Lee, Jun Hwa
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.20 no.1
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    • pp.29-35
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    • 2020
  • Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.