Secondary metopic craniosynostosis after posterior cranial decompression in cloverleaf skull deformity.

Cloverleaf skull deformity or Kleeblattschadel syndrome is a severe condition where multiple cranial sutures are absent and prematurely fused, leading to a trilobate head shape. The remaining open sutures or fontanelles compensate for rapid brain expansion, while the constricted fused calvarium restricts brain growth and results in increased intracranial pressure. Recent data show that early posterior cranial and foramen magnum decompression positively affects infants with cloverleaf skulls. However, long-term sequelae are still rarely discussed. We hereby report a child who developed secondary metopic craniosynostosis after posterior cranial decompression, which required a front-orbital advancement and cranial remodelling as a definitive procedure.

Birk-Barel Intellectual Disability Dimorphism and KCNK9 Imprinting Syndrome: Craniofacial Surgery Considerations for an Exceedingly Rare Syndrome.

Birk-Barel intellectual disability dimorphism syndrome, also referred to as KCNK9 imprinting syndrome, is an exceedingly rare condition described in under 20 cases that presents with intellectual disability, hypotonia, scoliosis, dysphonia, dysphagia, and craniofacial dysmorphic features. The condition follows an autosomal dominant pattern of inheritance in the maternally expressed KCNK9 gene on chromosome 8. Due to the complexity of presentation, patients with Birk-Barel syndrome are optimally managed by a multidisciplinary team including a craniofacial surgeon. Previously described craniofacial dysmorphic features include micrognathia, cleft palate, dolichocephaly, broad nasal tip, and broad philtrum, among others. Here the authors describe a genetically confirmed case that has been managed in our institution's multidisciplinary cleft and craniofacial clinic. The authors aim to discuss Birk-Barel syndrome for a surgical and craniofacial audience with considerations for operative management in the context of a multidisciplinary team.

Deep Brain Stimulation for Severe and Intractable Aggressive Behavior.

Aggressive behavior in patients with intellectual disability can be resistant to pharmacological treatment and have detrimental consequences to themselves, family members, and caregivers. Hypothalamic deep brain stimulation (DBS) has been used to improve this type of behavior in severe and refractory cases. Here, we present the description and analysis of DBS of the posteromedial hypothalamus (PMH) and its long-term impact as treatment to improve severe and refractory aggressive behaviors, even with previous bilateral hypothalamotomy without improvement in patients with intellectual disability. Eleven patients underwent bilateral DBS of the PMH. Their medical records were reviewed, and the impact on behavior was measured using preoperative and postoperative Modified Overt Aggression Scale (MOAS) during the last follow-up medical visit. Nine of 11 patients presented a significant decrease in the severity of aggressive behavior, with a preoperative and postoperative MOAS average value of 50.5 and 18.7, respectively. An overall improvement of 63% was seen with a mean follow-up time of 4 years. A patient who previously underwent a bilateral hypothalamotomy via radiofrequency was included in this group. During follow-up, 3 patients presented deterioration of symptoms subsequent to pulse generator depletion but made a full clinical recovery after battery replacement. We posit that DBS of the PMH may be a safe and effective in improving severe and refractory aggressive behavior in patients with long-term intellectual disability.

Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery.

BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and leads to a wide range of symptoms including microcephaly, distinct facial features, recurrent seizures, and severe mental retardation. Until now, less than 100 cases have been reported. CASE PRESENTATION: A 22-month old male infant with NCBRS underwent elective cleft palate surgery. The anaesthetists were challenged by the physiological condition of the patient: narrow face, very small mouth, mild tachypnea, slight sternal retractions, physical signs of partial monosomy 9p, and plagiocephalus, midface hypoplasia, V-shaped cleft palate, enhanced muscular hypotension, dysplastic kidneys (bilateral, estimated GFR: approx. 40 ml/m2), nocturnal oxygen demand, and combined apnea. In addition, little information was available about interaction of the NCBRS displayed by the patient and anaesthesia medications. CONCLUSIONS: The cleft palate was successfully closed using the bridge flap technique. Overall, we recommend to perform a trial video assisted laryngoscopy in the setting of spontaneous breathing with deep inhalative anaesthesia before administration of muscle relaxation to detect any airway difficulties while remaining spontaneoues breathing and protective reflexes.

Epilepsy surgery reduced seizure frequency for patients with severe motor and intellectual disorders.

INTRODUCTION: Little is known about epilepsy surgery for patients with severe motor and intellectual disorders (SMIDs). We hypothesized that epilepsy surgery could reduce epileptic seizure frequency in these patients. The purpose of this study was to compare pre- and postoperative seizure frequency in patients with SMIDs. METHODS: A total of 288 surgeries were performed for pediatric patients, including those with SMIDs, from 2009 to 2018. Inclusion criteria were as follows: Oshima classification 1 (intelligence quotient <20 and bedridden), ≥2 years old, proven ictal events evaluated by long-term video electroencephalography, and ≥1-year follow-up. Seizure frequency and the number of antiseizure medications (ASMs) were compared between pre- and postepilepsy surgery. Patients' respiratory and feeding conditions were also examined to determine comorbidities. RESULTS: Nineteen patients (5 girls, 14 boys; age: 2 to 12 years) fulfilled the inclusion criteria. One patient underwent focus resection, 2 patients underwent total corpus callosotomy, and 16 patients underwent vagus nerve stimulation therapies. Of 19 patients, 16 (84.2%) had daily seizures, and 3 (15.8%) had weekly seizures before surgery. Epilepsy surgery significantly reduced seizure frequency (p = 0.029). Five patients (26.3%) had status epilepticus (SE) before surgery, which disappeared in all but one after surgery (p = 0.046). The number of ASMs did not change between before and after surgery (p = 0.728). CONCLUSION: Epilepsy surgery reduced the frequency of epileptic seizures and improved SE even among patients with compromised respiratory function and compromised food intake.

Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.

AIM OF THE STUDY: Mowat Wilson syndrome (MWS) is a complex genetic disorder due to mutation or deletion of the ZEB2 gene (ZFHX1B), including multiple clinical features. Hirschsprung disease is associated with this syndrome with a prevalence between 43 and 57%. The aim of this study was to demonstrate the severe outcomes and the high complication rates in children with MWS, focusing on their complicated follow-up. METHODS: A retrospective comparative study was conducted on patients referred to Robert-Debré Children's Hospital for MWS from 2003 to 2018. Multidisciplinary follow-up was carried out by surgeons, geneticists, gastroenterologists, and neurologists. Data regarding patient characteristics, surgical management, postoperative complications, and functional outcomes were collected. RESULTS: Over this period of 15 years, 23 patients were diagnosed with MWS. Hirschsprung disease was associated with 10 of them (43%). Of these cases, two patients had recto-sigmoïd aganglionosis (20%), three had aganglionic segment extension to the left colic angle (30%), two to the right colic angle (20%), and three to the whole colon (30%). The median follow-up was 8.5 years (2 months-15 years). All patients had seizures and intellectual disability. Six children (60%) presented with cardiac defects. At the last follow-up, three patients still had a stoma diversion and 7 (70%) were fed orally. One patient died during the first months. Eight (80%) of these children required a second surgery due to complications. At the last follow-up, three patients reported episodes of abdominal bloating (42%), one recurrent treated constipation (14.3%), and one soiling (14.3%). Genetic analysis identified three patients with heterozygous deletions, three with codon mutations, and three with frameshift mutations. CONCLUSIONS: MWS associated with Hirschsprung disease has a high rate of immediate surgical complications but some patients may achieve bowel function comparable with non-syndromic HD patients. A multidisciplinary follow-up is required for these patients. LEVEL OF EVIDENCE: Retrospective observational single cohort study, Level 3.

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability.

The largest group of recipients of pediatric gastrostomy have neurological impairment with intellectual disability (ID). This study investigated trends in first gastrostomy insertion according to markers of disadvantage and ID etiology. Linked administrative and health data collected over a 32-year study period (1983-2014) for children with ID born between 1983 and 2009 in Western Australia were examined. The annual incidence rate change over calendar year was calculated for all children and according to socioeconomic status, geographical remoteness, and Aboriginality. The most likely causes of ID were identified using available diagnosis codes in the linked data set. Of 11,729 children with ID, 325 (2.8%) received a first gastrostomy within the study period. The incidence rate was highest in the 0-2 age group and there was an increasing incidence trend with calendar time for each age group under 6 years of age. This rate change was greatest in children from the lowest socioeconomic status quintile, who lived in regional/remote areas or who were Aboriginal. The two largest identified groups of ID were genetically caused syndromes (15.1%) and neonatal encephalopathy (14.8%).Conclusion: Gastrostomy is increasingly used in multiple neurological conditions associated with ID, with no apparent accessibility barriers in terms of socioeconomic status, remoteness, or Aboriginality. What is Known: • The use of gastrostomy insertion in pediatrics is increasing and the most common recipients during childhood have neurological impairment, most of whom also have intellectual disability (ID). What is New: • Nearly 3% of children with ID had gastrostomy insertion performed, with the highest incidence in children under 3 years of age. • Gastrostomy use across different social groups was equitable in the Australian setting.

Impact of resective epilepsy surgery on health-related quality of life in children with and without low intellectual ability.

OBJECTIVE: The current study examined pre- and postoperative health-related quality of life (HRQL) across children with and without low intellectual ability. We also aimed to clarify the literature on postsurgical change by assessing domain-specific HRQL pre- and postoperatively in children with drug-resistant epilepsy. METHOD: All patients (n=111) underwent resective epilepsy surgery between 1996 and 2016 at the Hospital for Sick Children in Toronto, comparing baseline and 1-year follow-up HRQL with the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-76). At the group-level, postsurgical change in HRQL was examined through linear mixed-effects modeling. Clinically important change in HRQL at the individual level was quantified using a standard error of measurement (SEM)-based criterion, and estimates were stratified by intellectual ability. RESULTS: Children with epilepsy and low intellectual ability had lower overall HRQL compared with those with normal intelligence (b=-10.45, SE=4.89, p=.035). No differences in change in HRQL related to intellectual level were found. In the broader sample, significant postoperative improvements were found for HRQL related to physical activity (b=8.28, SE=1.79, p<.001), social activity (b=15.81, SE=2.76, p<.001), and behavior (b=4.34, SE=1.35, p=.001). Postoperative improvements in physical and social HRQL were associated with better seizure control (p=.011). Conversely, cognitive and emotional domains of HRQL did not improve one year postoperatively, even in the presence of improved seizure control. SIGNIFICANCE: Results suggest that children with low intellectual ability can expect to achieve similar improvements in HRQL after epilepsy surgery compared with those with normal intelligence. Further, while overall HRQL is shown to improve in children following epilepsy surgery, domain-specific change is nuanced and has important implications for health practitioners aiming to monitor treatment progress of patients.

Prevalence and Outcomes of Liver Transplantation in Children With Intellectual Disability.

OBJECTIVE: We sought to describe the prevalence and outcomes of liver transplantation in children with intellectual disability (ID). We hypothesized that recipients with ID have comparable short-term outcomes compared with those without ID. METHODS: We performed a retrospective cohort analysis of children receiving a first liver-alone transplant in the United Network for Organ Sharing dataset from 2008 to 2013. Recipients with definite or probable ID were compared to children without ID using χ tests. Kaplan-Meier curves were constructed for patient and graft survival. Cox proportional hazard models were used to estimate the association between ID and graft failure and patient survival. RESULTS: During the study period, 254 children with definite (115) or probable (139) ID underwent first liver transplant, accounting for 15% of all first pediatric liver transplants (1721). Recipients with definite ID tended to be male have a metabolic indication for transplant, a lower pediatric end-stage liver disease score at listing than recipients with no ID, and were less likely to receive a living donor transplant. Recipients with ID were more likely to have public insurance and had more treatment-related hospitalizations in the first year than those without ID. Functional status tended to improve in all recipients at follow-up. ID was not significantly associated with patient or graft survival. CONCLUSIONS: Children with ID form a significant portion of total liver transplant recipients, and their short-term graft and patient survival are comparable with children without ID. Further research is needed to examine long-term outcomes of transplant in this population.

Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi.

BACKGROUND: The prevalence of deafness-dystonia syndrome (DDS) is relatively low. To our knowledge, only 2 cases of this syndrome treated with deep brain stimulation (DBS) have been reported. OBJECTIVES: We present a patient with DDS of unknown cause, refractory to medical treatment, who has been successfully treated with DBS of the internal globus pallidus (DBS-GPi) and followed up for 4 years. METHODS: A 21-year-old male, with progressive bilateral sensorineural hearing loss since the age of 3, developed dystonic movements at the age of 12. The patient presented with progressive segmental craniocervical dystonia with jaw-opening, tongue protrusion, retrocollis and gradual overflow including upper limb dystonia. Pharmacological therapy was ineffective. At the age of 17, the patient's condition deteriorated with the risk of developing a dystonic state. RESULTS: DBS-GPi implantation resulted in a striking improvement. The Burke-Marsden-Fahn Dystonia Rating Scale (BMFDRS) score improved from 75 points before the surgery to 10 points at 3 months after DBS-GPi implantation. Neurological examination at the age of 21 showed mild dystonic movements, mainly oromandibular dystonia (BMFDRS: 15 points). The clinical phenotype of our patient was consistent with Mohr-Tranebjaerg syndrome (MTS). We performed genetic analysis of the TIMM8A gene (the only gene in which mutations are known to cause MTS), but the result was negative; however, other potentially new mutations have to be considered. CONCLUSIONS: Based on our case with the longest reported follow-up of 4 years and 2 earlier reports, we advise to consider DBS-GPi in patients with DDS with unsatisfactory effect of pharmacological treatment.

Anesthetic Management of a Patient With Emanuel Syndrome.

Emanuel syndrome is associated with supernumerary chromosome, which consists of the extra genetic material from chromosome 11 and 22. The frequency of this syndrome has been reported as 1 in 110,000. It is a rare anomaly associated with multiple systemic malformations such as micrognathia and congenital heart disease. In addition, patients with Emanuel syndrome may have seizure disorders. We experienced anesthetic management of a patient with Emanuel syndrome who underwent palatoplasty. This patient had received tracheotomy due to micrognathia. In addition, he had atrial septal defect, mild pulmonary artery stenosis, and cleft palate. Palatoplasty was performed without any complication during anesthesia. Close attention was directed to cardiac function, seizure, and airway management.

Anesthetic management of pediatric patients with Emanuel syndrome.

Emanuel syndrome is a rare anomaly associated with multiple systemic malformations. We present two cases involving pediatric patients with Emanuel syndrome. The first patient presented with micrognathia and had patent ductus arteriosus and a single kidney. The patient was difficult to intubate with McGRATH(®) but was successfully intubated with an Airtraq(®) device. The second patient did not present with micrognathia and was not difficult to intubate. A thorough examination of the heart, kidney, and spinal cord is important when planning the anesthetic management of patients with Emanuel syndrome. Moreover, adequate preparation for a difficult airway is essential, and the Airtraq(®) device may be useful for intubating patients with Emanuel syndrome with micrognathia.

Resting-state activity in development and maintenance of normal brain function.

One of the most intriguing recent discoveries concerning brain function is that intrinsic neuronal activity manifests as spontaneous fluctuations of the blood oxygen level-dependent (BOLD) functional MRI signal. These BOLD fluctuations exhibit temporal synchrony within widely distributed brain regions known as resting-state networks. Resting-state networks are present in the waking state, during sleep, and under general anesthesia, suggesting that spontaneous neuronal activity plays a fundamental role in brain function. Despite its ubiquitous presence, the physiological role of correlated, spontaneous neuronal activity remains poorly understood. One hypothesis is that this activity is critical for the development of synaptic connections and maintenance of synaptic homeostasis. We had a unique opportunity to test this hypothesis in a 5-y-old boy with severe epileptic encephalopathy. The child developed marked neurologic dysfunction in association with a seizure disorder, resulting in a 1-y period of behavioral regression and progressive loss of developmental milestones. His EEG showed a markedly abnormal pattern of high-amplitude, disorganized slow activity with frequent generalized and multifocal epileptiform discharges. Resting-state functional connectivity MRI showed reduced BOLD fluctuations and a pervasive lack of normal connectivity. The child underwent successful corpus callosotomy surgery for treatment of drop seizures. Postoperatively, the patient's behavior returned to baseline, and he resumed development of new skills. The waking EEG revealed a normal background, and functional connectivity MRI demonstrated restoration of functional connectivity architecture. These results provide evidence that intrinsic, coherent neuronal signaling may be essential to the development and maintenance of the brain's functional organization.

[Johanson-Blizzard syndrome: audiological features and results of cochlear implantation].

Johanson-Blizzard syndrome is a rare congenital autosomal recessive disease characterized by the association of congenital deficiency of the exocrine pancreatic function and multiple malformations. One of the most common manifestations of this pathology is sensorineural hearing loss of different severity and anomalous development of the inner ear. The case of cochlear implantation in the patient presenting with bilateral sensorineural deafness, congenital malformation of the inner ear, and stenosis of the internal auditory canal is reported.

Disparities in outcomes of colorectal cancer surgery among adults with intellectual and developmental disabilities.

BACKGROUND: Disparities in colorectal cancer screening have been documented among people with intellectual and developmental disabilities (IDD). However, surgical outcomes in this population have yet to be studied. The present work aimed to evaluate the association of IDD with outcomes following colorectal cancer resection. METHODS: All adults undergoing resection for colorectal cancer in the 2011-2020 National Inpatient Sample were identified. Multivariable linear and logistic regression models were developed to examine the association of IDD with risk factors as well as outcomes including mortality, complications, costs, length of stay (LOS), and non-home discharge. The study is limited by its retrospective nature and did not capture disease staging or time of diagnosis. RESULTS: Among 722,736 patients undergoing colorectal cancer resection, 2,846 (0.39%) had IDD. Compared to patients without IDD, IDD patients were younger and had a higher burden of comorbidities. IDD status was associated with increased odds of non-elective admission (AOR 1.40 [95% CI 1.14-1.73]) and decreased odds of treatment at high-volume centers (AOR 0.64 [95% CI 0.51-0.81]). Furthermore, IDD patients experienced significantly greater LOS (9 vs 6 days, p<0.001) and hospitalization costs ($23,500 vs $19,800, p<0.001) relative to neurotypical patients. Upon risk adjustment, IDD was significantly associated with 2-fold increased odds of mortality (AOR 2.34 [95% CI 1.48-3.71]), 1.4-fold increase in complications (AOR 1.41 [95% CI 1.15-1.74]), and 6.8-fold increase in non-home discharge (AOR 6.83 [95% CI 5.46-8.56]). CONCLUSIONS: IDD patients undergoing colorectal cancer resection experience increased likelihood of non-elective admission, adverse clinical outcomes, and resource use. Our findings highlight the need for more accessible screening and patient-centered interventions to improve quality of surgical care for this at-risk population.

Bilateral perisylvian ulegyria: an under-recognized, surgically remediable epileptic syndrome.

PURPOSE: Interest in the association of epilepsy and pseudobulbar palsy was rekindled since the identification through magnetic resonance imaging (MRI) of bilateral perisylvian polymicrogyria (PMG). Seizures are often intractable, but resective epilepsy surgery has not been recommended. However, a similar clinical picture can be encountered in patients with bilateral perisylvian destructive lesions, which fit the description of ulegyria (ULG). We report a series of patients with epilepsy and pseudobulbar palsy due to bilateral perisylvian ULG (BP-ULG), show that hippocampal sclerosis (HS) is often associated and highlight the fact that in this entity, unlike in malformative bilateral perisylvian PMG, seizures may be surgically treated. METHODS: The motor, cognitive, epileptologic, and imaging features of 12 patients with perisylvian ULG followed at three institutions are described. For patients with refractory seizures, we detail extracranial and intracranial electrographic recordings, surgical strategies, histopathologic analyses of the resected tissue, and outcome of surgical treatment. Descriptive statistics were used for quantitative and categorical variables. Student's t-test was used to compare means, and a p < 0.05 was considered significant. KEY FINDINGS: Pseudobulbar palsy and mental retardation were present in all patients with symmetrical BP-ULG. Five had refractory seizures. There was no relationship between the severity of the pseudobulbar palsy or of the mental retardation and the degree of seizure control with medication. The five patients in whom seizures were refractory to medication had significantly earlier age of onset and longer duration of epilepsy (p < 0.05). Dual pathology with associated unilateral HS was present in four. One patient with dual pathology had a temporolimbic electroclinical picture and had an anterior temporal lobectomy (ATL) based upon noninvasive evaluation. The other four had ictal semiology suggesting involvement of both temporolimbic and perisylvian cortex. Intracranial electroencephalography (EEG) showed concomitant seizure onset in the anterior temporal region and in the ipsilateral ULG in three of the four with dual pathology and in the ulegyric cortex in the one without HS. Resection guided by a combination of semiology, MRI, and extra and intracranial EEG led to complete seizure control in two and almost complete seizure control (Engel class II) in two other patients. The only surgical failure was an isolated ATL in a patient with dual pathology, and concomitant seizure onset in both lesions according to semiology and intracranial EEG. SIGNIFICANCE: Our findings suggest that BP-ULG mimics the clinical features of bilateral perisylvian PMG. In patients with refractory seizures, recognition of this entity should lead to consideration of resective surgery despite the bilateral ULG.

Corpus callosotomy is a valuable therapeutic option for patients with Lennox-Gastaut syndrome and medically refractory seizures.

PURPOSE: We present our experience with corpus callosotomy (CC) in a developing country with limited resources in patients with Lennox-Gastaut syndrome (LGS) and medically refractory seizures. METHODS: All patients with LGS who underwent CC for medically refractory epilepsy at Namazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran from May 2009 through March 2012 were reviewed in a retrospective study. Presurgical evaluation included clinical history, neurological examination, a 2-hour video-EEG recording, and 1.5-T MRI. Outcome was evaluated at 6, 12, and 24 months postoperatively. We considered the outcome as a success if the patients were either seizure-free or had more than 85% reduction in seizure frequency compared to their preoperative status. RESULTS: Eighteen patients (14 males and 4 females) had surgery. Overall, seizures in 11 patients (61.1%) responded favorably one year after surgery; this figure was 6 out of 9 patients (66.6%) two years after surgery. Seven patients (38.8%) were free of disabling seizures one year after CC; this figure was three out of nine patients (33.3%) two years after CC. Three patients (16.6%) were free of all seizure types one year after surgery. Ten patients (55.5%) had no postoperative complications of any kind. CONCLUSION: Corpus callosotomy is an effective palliative surgical procedure for patients with LGS with intractable seizures whose seizures are not amenable to focal resection. This is a feasible treatment option for patients, even for those in developing countries with limited resources.

Freehand correction of scoliosis in Rett's syndrome.

We present the case of an 18-year-old girl with a scoliosis (long C-shaped curve) in association with an atypical Rett's syndrome. In order to attain a full correction and to provide her with adequate posture and sitting balance, segmental instrumentation was utilised from the high thoracic spine to the pelvis. We describe the procedure including the relevant pre-operative, intra-operative and post-operative imaging.

Surgical treatment for kyphoscoliosis in Cohen syndrome.

Cohen syndrome is a very rare disease. Complication by spinal deformity has been reported, but management and surgery for spinal deformity in Cohen syndrome has not been previously described. The objective of this study was to examine the outcome of surgical treatment for kyphoscoliosis of Cohen syndrome with a literature review. The patient was a 14-year-old male with the characteristics of Cohen syndrome: truncal obesity, mental retardation, arachnodactyly, microcephalia, and a facial malformation. Scoliosis was conservatively treated with a brace at 13 years of age, but the spinal deformity rapidly progressed within a year. Plain radiographs before surgery showed scoliosis of 47 degrees (T5-T11) and 79 degrees (T11-L3), and kyphosis of 86 degrees (T7-L1). One-stage anteroposterior corrective fusion of T4-L3 was scheduled after 2-week Halo traction. Postoperative respiratory management was carefully performed because of Cohen syndrome-associated facial malformation, obesity, and reduced muscle tonus. Respiration was managed with intubation until the following day and no respiratory problems occurred. After surgery, thoracolumbar scoliosis was 28 degrees (correction rate: 65%). Kyphosis was markedly improved from 86 degrees to 20 degrees, achieving a favorable balance of the trunk. The outcome is favorable at 6.5 years after surgery. In conclusion, Cohen syndrome is often complicated by spinal deformity, particularly kyphosis, that is likely to progress even in adulthood. In our patient, spinal deformity progressed within a short period, even with brace treatment. Surgery should be required before progression to the severe spinal deformity with careful attention to general anesthesia.