Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.

Mitochondria-related neurodegenerative diseases have been implicated in the disruption of primary cilia function. Mutation in an intrinsic mitochondrial complex I component NDUFAF2 has been identified in Leigh syndrome, a severe inherited mitochondriopathy. Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome, a ciliopathy with defects in the brain, kidney, and eye. Here, we report a mechanistic link between mitochondria metabolism and primary cilia signaling. We discovered that loss of NDUFAF2 caused both mitochondrial and ciliary defects in vitro and in vivo and identified NDUFAF2 as a binding partner for ARMC9. We also found that NDUFAF2 was both necessary and sufficient for cilia formation and that exogenous expression of NDUFAF2 rescued the ciliary and mitochondrial defects observed in cells from patients with known ARMC9 deficiency. NAD+ supplementation restored mitochondrial and ciliary dysfunction in ARMC9-deficient cells and zebrafish and ameliorated the ocular motility and motor deficits of a patient with ARMC9 deficiency. The present results provide a compelling mechanistic link, supported by evidence from human studies, between primary cilia and mitochondrial signaling. Importantly, our findings have significant implications for the development of therapeutic approaches targeting ciliopathies.

Schizodontic Molarization of Mandibular Premolars: A Case Report of Gemination.

Background: Tooth gemination is a single enlarged or joined tooth with a normal tooth count when the anomalous tooth is counted as one. Mandibular second premolars show an elevated variability of crown morphology. Only nine cases of isolated second premolar macrodontia have been reported in the literature. Case Description: This case report presents the clinical and radiographic findings and conservative treatment of an atypical and rare case of localized bilateral molarization of mandibular second premolars. Conclusion: Dental professionals should acquire deeper knowledge about anomalies and plan treatment carefully to avoid unexpected complications during dental procedures caused by morphological ignorance.

Sigmoid sinus diverticulum without pulsatile tinnitus occurring concurrently with chronic otitis media mucosal type.

Sigmoid sinus diverticulum is a rare vascular anomaly often associated with pulsatile tinnitus. It can occur in cases of chronic otitis media squamous type (unsafe type) due to dehiscence of the sigmoid sinus plate caused by cholesteatoma. The presentation of which is that of pulsatile tinnitus. However, we present an unusual case of sigmoid sinus diverticulum occurring concurrently with chronic otitis media mucosal type (safe type) but in the absence of pulsatile tinnitus. This case report highlights the diagnostic challenges and management of this rare clinical scenario.

The pectus care guidelines: best practice consensus guidelines from the joint specialist societies SCTS/MF/CWIG/BOA/BAPS for the treatment of patients with pectus abnormalities.

Pectus defects are a group of congenital conditions found in approximately 1 in 250 people, where the sternum is depressed back towards the spine (excavatum), protrudes forwards (carinatum) or more rarely is a mixture of both (arcuatum or mixed defects). For the majority of patients, it is well tolerated, but some patients are affected psychologically, physiologically or both. The deformity becomes apparent at a young age due to the growth of the ribs and the cartilage that links them to the sternum. The majority of defects are mild and are well tolerated, i.e. they do not affect activity and do not cause psychological harm. However, some young people develop lower self-esteem and depression, causing them to withdraw from activities (such as swimming, dancing) and from interactions that might 'expose' them (such as sleepovers, dating, going to the beach and wearing fashionable clothes). This psychological harm occurs at a crucial time during their physical and social development. A small number of patients have more extreme depression of their sternum that impedes their physiological reserve, which can occur when engaging in strenuous exercise (such as running) but can also limit moderate activity such as walking and climbing stairs. The effects can be so extreme that symptoms occur at rest or cause life-threatening compression of the major blood vessels and organs. The group of patients with physiological impairment usually also suffer from low self-esteem and depression. This paper summarizes the current evidence for the different treatment strategies for this condition, including supportive care, psychological support and non-surgical techniques including bracing and vacuum bell therapy. We also consider surgical techniques including the Ravitch procedure, the Nuss procedure (minimally invasive repair of pectus excavatum), pectus implants and other rare procedures such as Pectus Up. For the majority of patients, supportive care is sufficient, but for a minority, a combination of the other techniques may be considered. This paper also outlines best practice guidance for the delivery of such therapies, including standardized assessment, consent to treatment, audit, quality assurance and long-term support. All the interventions have risks and benefits that the patient, parents and clinicians need to carefully consider and discuss when deciding on the most appropriate course. We hope this evidence review of 'Best Practice for Pectus' will make a significant contribution to those considerations and help all involved, from patients to national policy makers, to deliver the best possible care.

The postoperative renal function of persistent cloaca patients treated by posterior sagittal anorecto-urethro-vaginopalsty: results of a nationwide survey in Japan.

PURPOSE: We investigated the postoperative renal function in persistent cloaca (PC) patients who underwent posterior sagittal anorecto-urethro-vaginopalsty (PSARUVP) and factors influencing the renal functional outcomes. METHODS: A questionnaire survey was distributed to 244 university and children's hospitals across Japan. Of the 169 patients underwent PSARUVP, 103 patients were enrolled in the present study. Exclusion criteria was patients without data of renal prognosis. RESULTS: The present study showed that renal anomalies (p = 0.09), vesicoureteral reflux (VUR) (p = 0.01), and hydrocolpos (p = 0.07) were potential factors influencing a decline in the renal function. Approximately half of the patients had a normal kidney function, but 45.6% had a reduced renal function (Stage ≥ 2 chronic kidney disease: CKD). The incidence of VUR was significantly higher in the renal function decline (RFD) group than those in the preservation (RFP) group (p = 0.01). Vesicostomy was significantly more frequent in the RFD group than in the RFP group (p = 0.04). Urinary tract infections (p < 0.01) and bladder dysfunction (p = 0.04) were significantly more common in patients with VUR than in patients without VUR. There was no association between the VUR status and the bowel function. CONCLUSIONS: Prompt assessment and treatment of VUR along with bladder management may minimize the decline in the renal function.

Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.

Aim of the present study is to evaluate the relationship between genetic and phenotypic data in a series of patients affected by grade I and II of foveal hypoplasia with stable fixation and good visual acuity using multimodal imaging techniques. All patients underwent complete clinical and instrumental assessment including structural Optical Coherence Tomography (OCT), OCT Angiography and Adaptive Optics (AO) imaging. Central macular thickness (CMT), inner nuclear layer (INL), vessel density in superficial capillary plexus were the main variables evaluated with OCT technology. Cone density, cone spacing, cone regularity, cone dispersion and angular density were the parameters evaluated with AO. Genetic evaluation and trio exome sequencing were performed in all affected individuals. Eight patients (3 males and 5 females) with a mean age of 12.62 years (range 8-18) were enrolled. The mean best corrected visual acuity (BCVA) was 0.18 ± 0.13 logMAR, mean CMT was 291.9 ± 16.6 µm and INL was 26.2 ± 4.6 µm. The absence of a foveal avascular zone (FAZ) was documented by examination of OCT-A in seven patients in the superficial capillary plexus. However, there was a partial FAZ in the deep plexus in patients P5 and P8. Of note, all the patients presented with major retinal vessels clearly crossing the foveal center. All individuals exhibited a grade I or II of foveal hypoplasia. In 5 patients molecular analyses showed an extremely mild form of albinism caused by compound heterozygosity of a TYR pathogenic variant and the hypomorphic p.[Ser192Tyr;Arg402Gln] haplotype. One patient had Waardenburg syndrome type 2A caused by a de novo variant in MITF. Two patients had inconclusive molecular analyses. All the patients displayed abnormalities on OCT-A. Photoreceptor count did not differ from normal subjects according to the current literature, but qualitative analysis of AO imaging showed distinctive features likely related to an abnormal pigment distribution in this subset of individuals. In patients with foveal hypoplasia, genetic and multimodal imaging data, including AO findings, can help understand the physiopathology of the foveal hypoplasia phenotype. This study confirms that cone density and visual function can both be preserved despite the absence of a pit.

A multi-centric, single-blinded, randomized, parallel-group study to evaluate the effectiveness of nasoalveolar moulding treatment in non-syndromic patients with complete unilateral cleft lip, alveolus and palate (NAMUC study): a study protocol for a randomized controlled trial.

BACKGROUND: Cleft lip and palate (CLP) are among the most common congenital anomaly that affects up to 33,000 newborns in India every year. Nasoalveolar moulding (NAM) is a non-surgical treatment performed between 0 and 6 months of age to reduce the cleft and improve nasal aesthetics prior to lip surgery. The NAM treatment has been a controversial treatment option with 51% of the cleft teams in Europe, 37% of teams in the USA and 25 of cleft teams in India adopting this methodology. This treatment adds to the already existing high burden of care for these patients. Furthermore, the supporting evidence for this technique is limited with no high-quality long-term clinical trials available on the effectiveness of this treatment. METHOD: The NAMUC study is an investigator-initiated, multi-centre, single-blinded randomized controlled trial with a parallel group design. The study will compare the effectiveness of NAM treatment provided prior to lip surgery against the no-treatment control group in 274 patients with non-syndromic unilateral complete cleft lip and palate. The primary endpoint of the trial is the nasolabial aesthetics measured using the Asher McDade index at 5 years of age. The secondary outcomes include dentofacial development, speech, hearing, cost-effectiveness, quality of life, patient perception, feeding and intangible benefits. Randomization will be carried out via central online system and stratified based on cleft width, birth weight and clinical trial site. DISCUSSION: We expect the results from this study on the effectiveness of treatment with NAM appliance in the long term along with the cost-effectiveness evaluation can eliminate the dilemma and differences in clinical care across the globe. TRIAL REGISTRATION: ClinicalTrials.gov CTRI/2022/11/047426 (Clinical Trials Registry India). Registered on 18 November 2022. The first patient was recruited on 11 December 2022. CTR India does not pick up on Google search with just the trial number. The following steps have to be carried out to pick up. How to search: ( https://ctri.nic.in/Clinicaltrials/advsearch.php -use the search boxes by entering the following details: Interventional trial > November 2022 > NAMUC).

Donor Kidney With Complete Duplication of Ureter: Is It Safe for Transplantation?

Renal transplantation is the best modality of treatment for patients with end-stage renal disease. Donor shortage remains a substantial problem, for which different strategies are employed, including acceptance of marginal donors and donor kidneys with anatomic variations. We performed a successful kidney transplant of a donor kidney that had complete duplication of the ureter. After transplant, the recipient had no urinary complications.

Surgical Management Of Congenital Thoracic Disorders: A 15-Year Center Experience.

INTRODUCTION: Congenital thoracic disorders represent a spectrum of fetal lung bud development abnormalities, which may affect breathing capacity and quality of life. We aim to evaluate the impact of surgery in the treatment of 4 major congenital conditions. MATERIALS AND METHODS: We performed a retrospective cohort analysis of patients who underwent surgical treatment in our tertiary center, from 2007 to 2022. RESULTS: Over the 15-year period, we treated 33 patients, with a male predominance of 55%. 22 patients (67%) were asymptomatic. When symptomatic, the recurrence of respiratory infections was the most common clinical presentation (18%). In 13 patients (39%), diagnosis was achieved through fetal ultrasonography. This study encompassed 13 patients with pulmonary sequestration (39%), 11 patients with bronchogenic cysts (33%), 7 patients with congenital pulmonary airway malformation (21%) and 2 patients with congenital lobar emphysema (6%). Considering solely lung malformation conditions, we accounted 22 patients with a median age of 3 [1-67] years-old. Surgery comprised bilobectomy (9%), lobectomy (77%), lobectomy with wedge resection (5%), segmentectomy (5%) and wedge resection (5%). Concerning bronchogenic cysts, we treated 11 patients with a median age of 19 [14-66] years-old. We identified 1 hilar, 1 intrapulmonary and 9 mediastinal lesions, of which 4 were paraesophageal, 4 were subcarinal and 1 was miscellaneous. Overall, surgery was conducted by thoracotomy in 61% of patients, VATS in 33% and RATS in 6%. The median drainage time was 3 [1-40] days and median hospital stay was 4 [1-41] days. There were no cases of mortality. Ensuing, 94% of patients experienced clinical improvement after surgery. CONCLUSION: Early diagnosis of congenital thoracic malformations increased considerably with the improvement in imaging technology and prenatal screening. Treatment may include expectant conservative treatment. However, in selected cases, surgery may play an important role in symptomatic control and prevention of disease progression.

Modified Reverse Hatchet Flap for Ablepharon-Macrostomia Syndrome.

Ablepharon-macrostomia syndrome is a rare disorder characterized by TWIST2 mutations and anterior lamellar dysgenesis. Timely intervention is critical to prevent exposure keratopathy, corneal ulceration, and permanent vision loss. We report a novel approach to multiplanar eyelid reconstruction in ablepharon-macrostomia syndrome involving use of a modified reverse hatchet flap in 1 lower eyelid along with division at the eyelid margin, recession of the eyelid retractors in conjunction with preputial skin grafting for anterior lamellar restoration in the other 3 eyelids.

Congenital eyelid imbrication syndrome: A rare occurrence in Pakistan.

Congenital eyelid imbrication syndrome (CEIS) is a rare condition presenting at birth and is characterised by overriding of the upper lid on the lower lid. It is due to longer upper lid, than the lower lid. Overriding leads to spontaneous eversion of the upper lids. In our patient, examination revealed canthal tendon laxity and hyperaemia of the tarsal conjunctiva. All the rest of the structures in the eyeball and adnexa were normal. Spontaneous eversion occurred in two weeks as the upper lid grew with time. No treatment was required.

Diffuse pulmonary arteriovenous malformation presenting with secondary polycythemia and headaches: a case report.

BACKGROUND: Pulmonary arteriovenous malformations are a relatively uncommon medical condition, affecting roughly 1 in every 2500 individuals. Of those suffering from pulmonary arteriovenous malformations, 80% have an underlying genetic condition: hereditary hemorrhagic telangiectasia. CASE PRESENTATION: We present the case of a 20-year-old Pakistani male with a history of persistent slower-onset frontal headaches that increased in severity within the course of the day. His hemoglobin was 18 g/dl, indicating polycythemia, for which he had undergone seven venesections in a month previously. His physical examination was unremarkable. His computed tomography scan depicted multiple dilated tortuous vessels with branching linear opacities in the right lower lobe of the lungs. The multiple feeding arteries were supplied by the right main pulmonary artery, and the large draining veins led to the right inferior pulmonary vein. This was identified as a diffuse pulmonary arteriovenous malformation. He was recommended for a right pulmonary artery angiogram. It showed multiple tortuous vessels with a nidus and large draining veins-features of a diffuse arteriovenous malformation in the right lower lobe of the lung consistent with the computed tomography scan. Embolization of two of these vessels feeding the arteriovenous malformation was conducted, using Amplatzer Vascular plug 2, whereas multiple pushable coils (five coils) were used for embolizing the third feeding vessel. This achieved 70-80% successful embolization of right pulmonary AVM; however, some residual flow was still seen in the arteriovenous malformation given the complexity of the lesion. Immediately after, his oxygen saturation improved from 78% to 96%. CONCLUSION: Diffuse pulmonary arteriovenous malformations, as seen in this patient, are rare, accounting for less than 5% of total pulmonary arteriovenous malformations diagnosed. The patient presented with a complaint of progressive frontal headaches, which can be attributed to low oxygen saturation or the presence of a cerebral arteriovenous malformation. There was no history of hereditary hemorrhagic telangiectasia in the patient's family. Furthermore, although most patients with hereditary hemorrhagic telangiectasia and hence pulmonary arteriovenous malformation have complaints of iron-deficiency anemia, our patient in contrast was suffering from polycythemia. This can be explained as a compensatory mechanism in hypoxemic conditions. Moreover, the patient had no complaint of hemoptysis or epistaxis, giving a varied presentation in comparison with a typical pulmonary arteriovenous malformation.

Secondary Linburg-Comstock syndrome post-trapeziectomy surgery.

Linburg-Comstock syndrome is an acquired symptomatic restrictive thumb index finger flexor tenosynovitis involving a hypertrophic tenosynovium between flexor pollicis longus and flexor digitorum profundus. Patients may report synkinetic movement of the thumb and index finger, pain and swelling. We present the case of a woman in her 80s who presented with painless Linburg-Comstock syndrome after a trapeziectomy 4 months earlier for trapeziometacarpal arthritis. A literature review of PubMed-indexed case reports found that Linburg-Comstock syndrome has never been described in a post-trapeziectomy patient. This unusual presentation that arose as a side effect of hand surgery remains unreported in the literature. We present this unique complication as the first such case in the world. This case report is a valuable addition to the existing knowledge on the complications of trapeziectomy surgery.

Spinal posture, mobility, and position sense in adolescents with chest wall deformities: a comparison of pectus excavatum, pectus carinatum and healthy peers.

PURPOSE: The study aimed to compare spinal posture, mobility, and position sense in adolescents with pectus excavatum (PE), pectus carinatum (PC), and healthy control (HC). METHODS: 22 with PE, 22 with PC, and 21 HC were included in the study. The spinal posture (thoracic kyphosis, lumbar lordosis, pelvic tilt, thoracic, lumbar, pelvic lateral tilt angles) and mobility (thoracic, lumbar, hip/sacral, and overall, in the sagittal and frontal plane) with the spinal mouse, and spinal position sense (repositing errors) with the inclinometer were assessed. RESULTS: The thoracic kyphosis angle of PE and PC was higher than in HC (p < 0.001; p = 0.001). Hip/sacral mobility in the sagittal plane was lower in the PE and PC than control, respectively (p < 0.001; p < 0.001). Overall sagittal spinal mobility (p:0.007) and hip/sacral mobility in the frontal plane (p:0.002) were lower in the PC than in HC. Overall frontal spinal mobility was lower in the PE and PC than in HC (p:0.002; p:0.014). The PE and PC repositing errors were higher (p < 0.001; p:0.014). CONCLUSION: The study found that adolescents with PE and PC had decreased spinal mobility, spinal alignment disorders, and a decline in spinal position sense. It is important not to overlook the spine during physical examinations of adolescents with chest wall deformities. In clinical practice, we suggest that adolescents with chest deformities should undergo a spine evaluation and be referred for physical therapy to manage spinal disorders.

The ten-year evaluation of clinical characteristics in congenital lung anomaly in pediatrics; a retrospective study in North of Iran.

INTRODUCTION: Congenital lung anomalies (CLA) are a group of anomalies, including congenital cystic adenomatoid malformation (CCAM), bronchopulmonary sequestrations (BPS), congenital lobar emphysema (CLE), and bronchogenic cysts (BC). The prevalence of these rare anomalies has risen in recent years, according to various population-based studies due to advances in fetal ultrasound technology. METHOD: This retrospective study examines the diagnosis of CLA, and was conducted on 72 patients between March 2014 and March 2024 at Taleghani Pediatric Hospital in Gorgan, Iran. RESULT: The average age was 18.8 ± 30.3 months, with the majority being boys (62.5%). Most participants had CCAM (41.7%), followed by CLE (18.1%), BPS (16.7%), pulmonary hypoplasia (9.7%), BC (8.3%), and hybrid lesion (5.6%). The majority of patients were Fars (62.5%), and the average hospitalization days was 9.4 ± 4.5 days. Cardiac anomalies were observed in 19.4% of the patients. 62 patients (86.1%) exhibited respiratory symptoms, and prenatal screening during pregnancy led to the diagnosis in 51 patients (70.8%). Most patients had left lung anomalies (43; 59.7%), and the majority (90.3%) survived. There is a statistically significant relation between needed for surgical treatment and patients' type of pulmonary lesions (p-value: 0.02). In addition, there was a significant relation between the Fars ethnicity and the presence of cardiac anomalies (p-value: 0.04). CONCLUSION: Some CLAs remain undiagnosed or untreated due to the rare nature of congenital lung anomalies. Nevertheless, improvements in ultrasound and other imaging methods will make diagnosing and managing these anomalies during the prenatal period more prevalent, resulting in enhanced understanding.

Expiratory Venous Volume and Arterial Tortuosity are Associated with Disease Severity and Mortality Risk in Patients with COPD: Results from COSYCONET.

Purpose: The aim of this study was to evaluate the association between computed tomography (CT) quantitative pulmonary vessel morphology and lung function, disease severity, and mortality risk in patients with chronic obstructive pulmonary disease (COPD). Patients and Methods: Participants of the prospective nationwide COSYCONET cohort study with paired inspiratory-expiratory CT were included. Fully automatic software, developed in-house, segmented arterial and venous pulmonary vessels and quantified volume and tortuosity on inspiratory and expiratory scans. The association between vessel volume normalised to lung volume and tortuosity versus lung function (forced expiratory volume in 1 sec [FEV1]), air trapping (residual volume to total lung capacity ratio [RV/TLC]), transfer factor for carbon monoxide (TLCO), disease severity in terms of Global Initiative for Chronic Obstructive Lung Disease (GOLD) group D, and mortality were analysed by linear, logistic or Cox proportional hazard regression. Results: Complete data were available from 138 patients (39% female, mean age 65 years). FEV1, RV/TLC and TLCO, all as % predicted, were significantly (p < 0.05 each) associated with expiratory vessel characteristics, predominantly venous volume and arterial tortuosity. Associations with inspiratory vessel characteristics were absent or negligible. The patterns were similar for relationships between GOLD D and mortality with vessel characteristics. Expiratory venous volume was an independent predictor of mortality, in addition to FEV1. Conclusion: By using automated software in patients with COPD, clinically relevant information on pulmonary vasculature can be extracted from expiratory CT scans (although not inspiratory scans); in particular, expiratory pulmonary venous volume predicted mortality. Trial Registration: NCT01245933.

Association between cervicocerebral artery dissection and tortuosity - a review on quantitative and qualitative assessment.

Cervicocerebral artery dissection stands out as a significant contributor to ischemic stroke in young adults. Several studies have shown that arterial tortuosity is associated with dissection. We searched Pubmed and Embase to identify studies on the association between arterial tortuosity and cervicocerebral artery dissection, and to perform a review on the epidemiology of cervicocerebral artery tortuosity and dissection, pathophysiology, measurement of vessels tortuosity, strength of association between tortuosity and dissection, clinical manifestation and management strategies. The prevalence of tortuosity in dissected cervical arteries was reported to be around 22%-65% while it is only around 8%-22% in non-dissected arteries. In tortuous cervical arteries elastin and tunica media degradation, increased wall stiffness, changes in hemodynamics as well as arterial wall inflammation might be associated with dissection. Arterial tortuosity index and vertebrobasilar artery deviation is used to measure the level of vessel tortuosity. Studies have shown an independent association between these two measurements and cervicocerebral artery dissection. Different anatomical variants of tortuosity such as loops, coils and kinks may have a different level of association with cervicocerebral artery dissection. Symptomatic patients with extracranial cervical artery dissection are often treated with anticoagulant or antiplatelet agents, while patients with intracranial arterial dissection were often treated with antiplatelets only due to concerns of developing subarachnoid hemorrhage. Patients with recurrent ischemia, compromised cerebral blood flow or contraindications for antithrombotic agents are usually treated with open surgery or endovascular technique. Those with subarachnoid hemorrhage and intracranial artery dissection are often managed with surgical intervention due to high risk of re-hemorrhage.

[Constructing a cataplexy face prediction model for narcolepsy type 1 based on ResNet-18].

Objective: To establish a prediction model for the identifying of cataplexy facial features based on clinical shooting videos by using a deep learning image recognition network ResNet-18. Methods: A cross-sectional study. Twenty-five narcolepsy type 1 patients who were first diagnosed and never received treatment and 25 healthy controls recruited by advertisement in the Second Affiliated Hospital of Nanchang University from 2020 to 2023.After image preprocessing, a total of 1 180 images were obtained, including 583 cataplexy faces and 597 normal faces.90% were selected as the training set and validation set, and then expanded the data by 5 times.80% of the expanded data set was extracted as the training set and 20% as the validation set, that is, the number of the training set was (583+597)×0.9×0.8×5=4 248, the number of the validation set was (583+597)×0.9×0.2×5=1 062. The data sets for training and validation were used train parameters to establish the model and were trained through the five-fold cross-validation method, to establish the ResNet-18 cataplexy face recognition model via transfer learning.10% (118 images) of the original non-amplified images were extracted as the test set. The test set data did not participate in data enhancement and model training, and was only used to evaluate the final performance of the model. Finally, ResNet-18 was compared with VGG-16, ResNet-34 and Inception V3 deep learning models, and the receiver operating characteristic curve was used to evaluate the value of ResNet-18 image recognition network in cataplexy face recognition. Results: Among 25 patients with narcolepsy type 1, 15 were males and 10 were females, aged [M (Q1, Q3)] of 14.0(11.0, 20.5) years.Among 25 healthy controls, 14 were males and 11 were females, with a median age of 16.0(14.4, 23.0) years.The overall accuracy of ResNet-18 image recognition network in the test set was 90.9%, the sensitivity was 96.4% and the specificity was 85.2%. The area under the ROC curve was 0.99(95%CI:0.96-1.00). The ResNet-18 model parameter amount was 11.69 M, the floating point operation amount was 1 824.03 M, and the single image recognition time was 5.9 ms. Conclusions: The cataplexy face prediction model built based on the deep learning image recognition network ResNet-18 has a high accuracy in identifying cataplexy faces.