Congenital fibrosis of extraocular muscles (CFEOM) syndrome is a genetically determined congenital disorder characterized by non-progressive ophthalmoplegia, restrictive ocular fixation, and ptosis. Its estimated incidence is approximately 1 in 230 000 to 250 000. This paper reports a family with type 3 CFEOM diagnosed at the Second Xiangya Hospital of Central South University. The proband was a 10-year-old female who presented with right esotropia and right upper eyelid ptosis. Whole-exome sequencing revealed a heterozygous c.904G>A mutation in the TUBB3 gene. Genetic testing of family members identified that the proband's mother carried the same mutation and exhibited left eyelid ptosis. The child underwent strabismus correction followed by ptosis repair, both of which led to marked postoperative improvement. For children presenting with congenital extraocular movement restriction and ptosis, genetic testing plays a crucial role in confirming the diagnosis and guiding family analysis. Additionally, individualized surgical intervention can significantly improve both ocular function and cosmetic appearance.
Humans ; Female ; Child ; Ophthalmoplegia/congenital* ; Fibrosis/congenital* ; Blepharoptosis/surgery* ; Mutation ; Tubulin/genetics* ; Pedigree ; Male ; Esotropia/genetics* ; Congenital Cranial Dysinnervation Disorders

Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE),a rare mitochondrial disorder caused by TYMP gene mutations,is characterized by severe gastrointestinal dysmotility,peripheral neuropathy,and leukodystrophy.This article summarizes the clinical data and intestinal ultrasound findings of a MNGIE case,aiming to provide insights for clinical diagnosis and treatment.
Humans ; Mitochondrial Encephalomyopathies/diagnostic imaging* ; Ultrasonography ; Intestines/diagnostic imaging* ; Male ; Female ; Intestinal Pseudo-Obstruction/diagnostic imaging* ; Ophthalmoplegia/congenital* ; Muscular Dystrophy, Oculopharyngeal

Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally locatednuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically shows distaldominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies showa high prevalence rate of early-onset ptosis and ophthalmoplegia and correlated with the severity of the disease. However,Asian reports show a low prevalence and late-onset ocular symptoms in DNM2-related CNM patients. p.R465W is one ofthe most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and hisdaughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocularsymptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2-related CNM in Korea.
Contracture ; Dynamin II ; Dynamins* ; Humans ; Korea ; Muscular Atrophy ; Muscular Diseases ; Myopathies, Structural, Congenital* ; Ophthalmoplegia ; Prevalence

PURPOSE: To acknowledge the importance of precise reduction of articular surface of tibial plateau fractures and to make a guideline of treatment by evaluating outcomes and effectiveness of using locking plate and minimally invasive percutaneous osteosynthesis technique. MATERIALS AND METHODS: Twenty-nine patients who underwent surgery for tibial plateau fracture from November 2005 to March 2010 were enrolled with 12 months follow-up in a retrograde manner. The Shatzker classification was used to classify fractures, and we used lateral submeniscal approach to make a precise reduction of articular surface. Radiologic evaluation was determined by presence of bone union, malalignment, and reduction loss or joint depression of articular surface. Post-operative infection, time of active movement of the knee joint, time of partial weight loading, and range of motion (ROM) of knee joint were evaluated. Lysholm Knee Score was used for functional evaluation. RESULTS: Bone union took place in all but one case that developed osteomyelitis. Angulation deformity of more than 10degrees and reduction loss or joint depression of more than 5 mm were not observed. There was one case of osteomyelitis and one case of superficial surgical site infection. There were satisfactory clinical results, with an average time of active knee joint movement and weight loading of 6 weeks. The average ROM of knee joint was 125degrees in the last follow up. As for functional evaluation using Lysholm Knee Score, cases showed an average Lysholm Knee Score of 94 which was a satisfactory result. CONCLUSION: In cases of tibial plateau fractures, if a surgeon accurately reduces the articular surface of joint and use minimally invasive locking plate it will help in bone union biologically, reducing the incidence of soft tissue injuries, and biomechanically maintaining the articular surface of the joint, proving itself to be a useful method of treatment.
Congenital Abnormalities ; Depression ; Follow-Up Studies ; Humans ; Hypogonadism ; Incidence ; Joints ; Knee ; Knee Joint ; Mitochondrial Diseases ; Ophthalmoplegia ; Osteomyelitis ; Range of Motion, Articular ; Soft Tissue Injuries

PURPOSE: The fingertip is the most commonly injured part of the hand and its injury frequently results in avulsion or crushing of a segment of the nail bed and fracture of the distal phalangeal bone. Restoration of a flat and smooth nail bed is essential for regrowth of a normal nail, which is important not only for cosmetic reasons but also for tactile capability of the fingertip. It is also anatomical reduction of the distal phalanx to promote patient's cosmetics and prevent nail bed deformity. Absence or no replacement of the nail plate results in obliterated proximal skin fold. When the avulsed nail plate cannot be returned to its anatomic position or when it is absent, we use a synthetic material for splinting the nail bed and alternative reductional method for distal phalangeal bone fracture, especially, instead of hardwares. METHODS: From January of 2006 to June of 2009, a total of ten patients and fourteen fingers with crushing or avulsion injuries of the fingertip underwent using the artificial nails for finger splint. We shaped artificial nails into the appropriate sizes for use as fingernail plates. We placed them under the proximal skin fold and sutured to the fold proximally and to the lateral and medial edges of the nail bed or to the distal fingertip. Our splints were as hard as K-wire and other fixation methods and more similar to anatomic nail plates. Artificial nails were kept in place for at least 3 weeks. RESULTS: No artificial nail related complication was noted in any of the ten cases. No other nail fold or nail bed complications were observed, except for minor distal nail deformity because of trauma. CONCLUSION: In conclusion, in order to secure the nail bed after injury and reduce the distal phalangeal bone fracture, preparing a nail bed splint from a artificial commercial nail is a cheap and effective method, especially, for crushed or avulsion injuries of the fingertip.
Amputation ; Congenital Abnormalities ; Cosmetics ; Fingers ; Fractures, Bone ; Hand ; Humans ; Hypogonadism ; Mitochondrial Diseases ; Nails ; Ophthalmoplegia ; Skin ; Splints

PURPOSE: There are some cases which the patients, especially the pedestrians whose feet have been run over by cars. We will look closely into the mechanism that causes friction burn, the amount of damage on the wound, and possible solutions for the treatment. METHODS: From January 2006 till December 2009, the study included 18 hospitalized patients. Charts about friction burn by tire were reviewed. We reviewed patient's age, sex, place where they got injury, type of burn, surgery types and the period of hospitalization. RESULTS: The average age was of acute injury group 9.3 years old, 22.7 years in secondary deformity group. 7 patients were male, 11 patients were female. Average hospitalization period was 23.6 days and mean follow up period was 7.3 months. There was 1 patient with third degree burn accompanying soft tissue defect with tendon injury. 14 patients had second degree of burn, and they immediately had taken skin graft. 1 patient had to receive the free flap. In addition, 3 patients who have damaged 10 to 20 years ago got cicatrix and had scar release and skin graft because of burn scar contracture and hypertrophic scar. CONCLUSION: Various types of friction burn have been observed - from burns that can be treated with dressing only to those require free flap. Therefore proper and timely treatments must be done in order to reduce the chance of developing a complication, and to provide early recovery for the patients as well.
Bandages ; Burns ; Cicatrix ; Cicatrix, Hypertrophic ; Congenital Abnormalities ; Contracture ; Female ; Follow-Up Studies ; Foot ; Free Tissue Flaps ; Friction ; Hospitalization ; Humans ; Hypogonadism ; Male ; Mitochondrial Diseases ; Ophthalmoplegia ; Skin ; Tendon Injuries ; Transplants

PURPOSE: Absorbable plate and screw fixation is widely used technique for internal rigid fixation in craniomaxillofacial surgery. However, there are some potential problems associated with the use of plate. The purpose of this study is to evaluate the feasibility of bone fixation in facial fracture using absorbable mesh in place of absorbable plate. METHODS: The records of 55 patients with zygomaticomaxilla fractures treated by open reduction, performed by the author from February 2008 to May 2009, were retrospectively reviewed. Patients were selected to receive absorbable mesh fixation. The incidence of all complications including infection, hypoesthesia, and deformity was examined. Analysis with postoperative computed tomography follow-up demonstrates degree of reduction. RESULTS: Forty-six patients met criteria for inclusion in the study. All patients went on to satisfactory healing without complication. Postoperative computed tomography revealed good bony alignment similarly non affected side. CONCLUSION: This study demonstrates that the rigid internal fixation of fractured bone fragments using absorbable mesh is more effective than absorbable plate, especially in comminuted fracture of maxilla.
Absorbable Implants ; Congenital Abnormalities ; Facial Bones ; Follow-Up Studies ; Fractures, Comminuted ; Humans ; Hypesthesia ; Hypogonadism ; Incidence ; Maxilla ; Mitochondrial Diseases ; Ophthalmoplegia ; Retrospective Studies ; Surgical Fixation Devices

PURPOSE: Absorbable plate and screw fixation is widely used technique for internal rigid fixation in craniomaxillofacial surgery. However, there are some potential problems associated with the use of plate. The purpose of this study is to evaluate the feasibility of bone fixation in facial fracture using absorbable mesh in place of absorbable plate. METHODS: The records of 55 patients with zygomaticomaxilla fractures treated by open reduction, performed by the author from February 2008 to May 2009, were retrospectively reviewed. Patients were selected to receive absorbable mesh fixation. The incidence of all complications including infection, hypoesthesia, and deformity was examined. Analysis with postoperative computed tomography follow-up demonstrates degree of reduction. RESULTS: Forty-six patients met criteria for inclusion in the study. All patients went on to satisfactory healing without complication. Postoperative computed tomography revealed good bony alignment similarly non affected side. CONCLUSION: This study demonstrates that the rigid internal fixation of fractured bone fragments using absorbable mesh is more effective than absorbable plate, especially in comminuted fracture of maxilla.
Absorbable Implants ; Congenital Abnormalities ; Facial Bones ; Follow-Up Studies ; Fractures, Comminuted ; Humans ; Hypesthesia ; Hypogonadism ; Incidence ; Maxilla ; Mitochondrial Diseases ; Ophthalmoplegia ; Retrospective Studies ; Surgical Fixation Devices

BACKGROUND AND PURPOSE: At least 100 Ryanodine receptor type 1 (RYR1) mutations associated with malignant hyperthermia (MH) and central core disease (CCD) have been identified, but 2 RYR1 mutations accompanying multiminicore myopathy in an MH and/or CCD family have been reported only rarely. METHODS: Fifty-three members of a large MH family were investigated with clinical, histopathologic, RYR1 mutation, and haplotyping studies. Blood creatine kinase (CK) and myoglobin levels were also measured where possible. RESULTS: Sequencing of the entire RYR1 coding region identified a double RYR1 mutation (R2435H and A4295V) in MH/CCD regions 2 and 3. Haplotyping analysis revealed that the two missense heterozygous mutations (c.7304G>A and c.12891C>T) were always present on a common haplotype allele, and were closely cosegregated with histological multiminicores and elevated serum CK. All the subjects with the double mutation showed elevated serum CK and myoglobin, and the obtained muscle biopsy samples showed multiminicore lesions, but only two family members presented a late-onset, slowly progressive myopathy. CONCLUSIONS: We found multiminicore myopathy with clinical and histological variability in a large MH family with an unusual double RYR1 mutation, including a typical CCD-causing known mutant. These results suggest that multiminicore lesions are associated with the presence of more than two mutations in the RYR1 gene.
Alleles ; Biopsy ; Clinical Coding ; Creatine Kinase ; Haplotypes ; Humans ; Malignant Hyperthermia ; Muscles ; Muscular Diseases ; Myoglobin ; Myopathies, Structural, Congenital ; Myopathy, Central Core ; Ophthalmoplegia ; Ryanodine ; Ryanodine Receptor Calcium Release Channel

Congenital fiber type disproportion (CFTD) is a form of congenital myopathy characterized by histologic findings of the smallness of type 1 fiber and type 1 fiber predominance. It is usually associated with hypotonia and motor weakness of the limb muscles at birth or the neonatal period. We report a 6-year-old girl with limb weakness and ophthalmoplegia, whose muscle pathology showed the classic pattern of CFTD without any other abnormality.
Child ; Extremities ; Female ; Humans ; Muscle Hypotonia ; Muscles ; Muscular Diseases ; Myopathies, Structural, Congenital* ; Ophthalmoplegia* ; Parturition ; Pathology