ABSTRACT
Objective:To explore the clinical characteristics of children with tyrosine hydroxylase deficiency (THD) in order to recognize this disease early as to optimize the treatment to improve the prognosis.Methods:A retrospective analysis was done on the clinical data of nine children with THD who were diagnosed at the Children′s Hospital of Fudan University from May 2018 to May 2020, including name, gender, age, age of onset, age of presentation, age of diagnosis, clinical manifestations, head imaging, tyrosine hydroxylase gene mutation, treatment, follow-up, and other results, which were classified according to Willemsen′s method, and the clinical characteristics were summarized and a literature review was carried out.Results:There were five males and four females with the age at onset ranged from newborn to two years and six months (median three months). The duration of diagnosis ranged from four months to five years and seven months (median nine months). The presenting symptom was motor retardation in seven cases. Clinical symptoms included hypokinesia in eight cases, limb dystonia in five cases, truncal hypotonia in four cases, dysphagia/dysarthria in four cases, oculogyric crises in four cases, tremor in three cases, rigidity in three cases, mask faces in three cases, bilateral ptosis in two cases, hypersalivation/sweating in two cases, diurnal fluctuation in two cases, myoclonic jerks in one case, and status dystonicus in one case. Cranial magnetic resonance imaging was normal in seven cases and non-specific in two cases (backward myelination in one case and bilateral ventricle enlargement and decreased white matter in another one). Eight tyrosine hydroxylase gene variants were found, including four missense variants, two frameshift variants, one shear variants and one nonsense variant, as well as three novel variants [c.1505_1518dup (p.R507Afs *23), c.1128_1138del (p.Q377Gfs *12), c.1058A>G(p.H353R)]. All patients were treated with levodopa and benserazide hydrochloride tables. The initial and maintenance doses of type A were 1.7-8.3 mg·kg -1·d -1 and 4.5-20.0 mg·kg -1·d -1, respectively. The initial and maintenance doses of type B were 1.7-12.5 mg·kg -1·d -1 and 4.6-12.0 mg·kg -1·d -1, respectively. In type A, four patients had dyskinesis which was relieved by decreasing the dose or maintaining the same dose of levodopa. One case of type B had dyskinesis which was self-resolving. Conclusions:Although the clinical manifestations of this disease are varied, the initial symptoms in children with onset within the first year of life are mostly hypokinesia, truncal hypotonia, and dystonia in limbs. It is recommended that children with THD, regardless of clinical type, should start at the minimum dose for easy segmentation in the range of 1.0-5.0 mg·kg -1·d -1, and the maintenance dose can be adjusted according to the individual response of the child. The incidence of dyskinesia of this disease is not low, but most can be treated by decreasing the initial dose and delaying the dosage rate.
ABSTRACT
Objective:To investigate the clinical efficacy of perforator-based neurocutaneous flaps in repairing soft tissue defects of lower extremity in plateau area.Methods:Forty-eight patients who received perforator-based neurocutaneous local flaps to repair soft tissue defects of lower extremity from August, 2017 to December, 2019 were entered a follow-up study. The patients were 17 to 65 years old, 29 males and 19 females. There were 23 flaps with sural neurocutaneous perforator, 15 with saphenous neurocutaneous perforators, and 10 with superficial peroneal neurocutaneous perforators. The size of soft tissue defects ranged from 4.0 cm×3.5 cm to 15.0 cm×12.0 cm. And the size of the flaps ranged from 6.0 cm×4.5 cm to 16.0 cm×13.0 cm. The donor sites of 17 cases were directly sutured, and the rest of 31 were repaired by skin graft. The regular follow-up was performed.Results:Of the 48 cases, 33 neurocutaneous flaps survived completely, 9 had necrosis around edge of the skin after surgery and healed after hyperbaric oxygen therapy and dressing change, and 6 had complete necrosis after surgery and healed after vacuum assisted drainage and skin grafting. In 6 to 12(average, 9.6) months of follow-up after surgery, the shape and texture of flaps were in good condition with the patient satisfaction rate on functional evaluation(joint motions, standing, walking) at 75.45%.Conclusion:Perforator-based neurocutaneous flap is an excellent choice for the repair of soft tissue defects of lower extremity in plateau area because of its reliable blood supply and minimal damage to donor site.
ABSTRACT
Objective To explore the methods of Y-V vascular pedicle lengthening technique for cover-age of the defect of great toe after wrap-around flap transfer, and decrease the morbidity of donor site in great toes. Methods Fifteen patients received three kinds of flap for immediate resurfacing of donor defect of the great toes during wrap-around flap transfer, all flaps were harvested with Y-V vascular pedicle lengthening technique. Among them, 9 cases received the free lateral tarsal flaps transplantation for coverage of defect in donor great toes, 5 cases was repaired by medial tarsal flaps, and only one was treated by the medial plantar flap. Results All the flaps survived postoperatively. The medial plantar flap encountered the venous crisis in postoperative 3 days, and regained the normal blood supply after continuous bleeding for 2 days. All patients were satisfied with cosmetic and functional outcome in average 10- month follow-up. The appearance and sensory function of donor toe repaired by medial tarsal flaps was best among three ones. Conclusion Depending on the Y-V vascular pedicle lengthening technique, the local pedical flaps of foots are enlarged scope for coverage of great toe after wrap-around flap harvest, which can decrease the complication of donor site at the most.