Nistagmo secundario a albinismo con compromiso ocular en paciente femenina: un desafío diagnóstico / Nystagmus secondary to albinism with ocular involvement in a female: a diagnostic challenge

INTRODUCCIÓN: El nistagmo infantil es infrecuente y representa un desafío diagnóstico para el pediatra. El albinismo es una de sus principales causas, siendo difícil de sospechar en ausencia de compromiso cutáneo evidente, especialmente en pacientes femeninas, debido a que tipo de herencia del albinismo ocular. OBJETIVO: Describir un caso de nistagmo secundario a albinismo con compromiso ocular aislado en paciente femenina, para discutir el enfoque diagnóstico pediátrico. CASO CLÍNICO: Paciente fe menino de 3 semanas de vida, sin antecedentes mórbidos, derivada a neuropediatra y oftalmólogo por movimientos oculares paroxísticos desde las 2 semanas, con estudio con electroencefalograma e imágenes cerebrales normales. A los 3 meses se confirmó translucencia iridiana, nistagmo y astigmatismo hipermetrópico. La valuación dermatológica descartó compromiso cutáneo. Evolucionó con inclinación cefálica hacia abajo y retraso del desarrollo de la coordinación, fue manejada con lentes de corrección y kinesioterapia. A los 3 años, destacaba mejoría de la agudeza visual, disminución del nistagmo y neurodesarrollo normal. La evaluación oftalmológica de ambos padres fue normal y no había antecedentes de nistagmo o albinismo en la familia. Por decisión de los padres no se realizó estudio genético. CONCLUSIÓN: El diagnóstico de nistagmo secundario a compromiso ocular del albinismo, aún en ausencia de afección cutánea, es clínico; el estudio genético permite confirmar la etiología, sin ser un examen imprescindible, a menos que se considere la planificación familiar. La pesquisa oportuna e intervención multidisciplinaria determinan un mejor pronóstico.

INTRODUCTION: Infantile nystagmus is an infrequent condition that represents a diagnostic challenge for the pediatri cian. Albinism is one of its main causes, being difficult to suspect in the absence of evident cutaneous involvement, especially in female patients, due to the inheritance type of ocular albinism. OBJECTIVE: To describe a case of nystagmus secondary to albinism with isolated ocular involvement in a female patient, in order to provide tools for pediatric approach and diagnosis. CLINICAL CASE: Three- weeks-old female patient, without morbid history, referred to a pediatric neurosurgeon and ophthal mologist due to paroxysmal eye movements since 2 weeks of age. The electroencephalogram and brain images were normal. In follow-up monitoring at 3 months, iris translucency, nystagmus, and hypermetropic astigmatism were confirmed. Dermatologic evaluation ruled out cutaneous invol vement. The patient developed cephalic downward inclination and coordination development de lay was confirmed, the patient was handled with corrective lenses and kinesiotherapy. In follow-up monitoring at 3 years, there was an improvement in visual acuity, decreased nystagmus and normal neurodevelopment. The ophthalmological evaluation of both parents was normal and there was no history of nystagmus or albinism in the family. Upon her parents' decision, no genetic study was ca rried out. CONCLUSION: The diagnosis of nystagmus secondary to ocular albinism, even in the absence of cutaneous involvement, is clinical. The genetic study allows confirming the etiology, without being an essential examination, unless family planning is considered. Timely research and multidisciplinary intervention determine a better prognosis.

Rare Concurrence of Congenital Muscular Torticollis and a Malignant Tumor in the Same Sternocleidomastoid Muscle

While congenital muscular torticollis (CMT) can occur along with other conditions, such as clavicle fracture or brachial plexus injury, these conditions exist outside the sternocleidomastoid muscle (SCM). We present a rare case with concurrence of CMT and a malignant tumor inside the same SCM, along with serial clinical and radiological findings of the atypical features of CMT. The malignant tumor was in fact a low-grade fibromyxoid sarcoma. To the best of our knowledge, the current case is the first of a concurrent condition of CMT inside the SCM. This case suggests that concurrent conditions could exist either inside or outside the SCM with CMT. Therefore, a thorough evaluation of SCM is required when subjects with CMT display atypical features, such as the increase of mass or poor response to conservative therapy. In that case, appropriate imaging modalities, such as ultrasonogram or magnetic resonance imaging, are useful for differential diagnosis.

Efficacy in the Treatment of Children's Muscular Torticollis with Tuina and Needling Qiaogong Point Predominantly / 上海针灸杂志

Objective To compare the clinical efficacy and treatment duration between two methods,tuina plus acupuncture at Qiaogong point predominantly versus conventional tuina method,in treating children with muscular torticollis.Method A hundred children with muscular torticollis were randomized into a treatment group and a control group,50 cases each.The treatment group was intervened by tuina plus acupuncture at Qiaogong point predominantly,while the control group was intervened by conventional tuina method.The clinical efficacies and treatment durations were compared between the two groups.Result The total effective rate and recovery rate were respectively 96.0％ and 80.0％ in the treatment group,versus 90.0％ and 42.0％ in the control group.There was a significant difference in comparing the recovery rate between the two groups (P＜0.05).The between-group difference in comparing the time taken for the effective and recovered cases was statistically significant (P＜0.05).Conclusion Tuina plus acupuncture predominantly at Qiaogong point can produce a more significant efficacy and it takes a shorter time in treating children with muscular torticollis compared to the conventional tuina method.

Improvement of Congenital Muscular Torticollis with Mild Symptoms in Non-Treated Adult after Simple Surgical Myotomy of Sternocleidomastoid Muscle under Local Anesthesia

In adult congenital muscular torticollis (CMT) patients, physical therapy is not as effective because the development of sternocleidomastoid muscle (SCM) muscle is complete. While surgical release can address CMT in adult patients, the risk of general anesthesia and visible postoperative scar is a concern, expecially in patients with mild symptoms. In this paper, we report our experience in treating such patients with minimal-incision myotomy under local anesthesia. A review was performed for all adult patients who had undergone the simple myotomy procedure. Surgical indication was reserved for patients with mild fibrotic band in the SCM muscle with minimal lengthdiscrepancybetween the muscles. All patients had recognizable head tiltand palpation of fibrotic band on affected side of the neck. Surgical details are described in the main body of text. Three female patients had undergone the procedure. Torticollis was resolve in all patients with complete restoration of ranage of motion. There were no postoperative complications, and patient satisfaction was high. We have reported three cases of mild CMT in adult female patients, who had undergone minimal-incision myotomy under local anesthesia. Outcomes were satisafactory with no morbidity to report. With careful patient selection, this method offers an alternate treatment option for adult CMT patients with mild symptoms.

Factors That Affect the Rehabilitation Duration in Patients With Congenital Muscular Torticollis

OBJECTIVE: To determine which factors affect the rehabilitation duration in patients with congenital muscular torticollis (CMT) and to predict the duration of rehabilitation and prognosis. METHODS: One hundred and eighteen patients (79 males and 39 females) who were diagnosed with CMT and received physical therapy were enrolled in this study. We retrospectively reviewed the information in terms of sex, gestational age, birth weight, methods of delivery, fetal presentation, age at diagnosis, the affected sternocleidomastoid (SCM) muscle site, SCM muscle thickness, ratio of muscle thickness on the affected side to that on the unaffected side (called the 'abnormal/normal [A/N] ratio'), and range of motion for cervical rotation and side bending. RESULTS: The SCM muscle thickness and A/N ratio had a positive linear relationship with the rehabilitation duration. Patients who were in the breech position needed longer rehabilitation. The birth weight and age at diagnosis were negatively correlated with the rehabilitation duration. However, the cervical range of motion, mass site, sex, gestational age, and methods of delivery were not correlated with the rehabilitation duration. CONCLUSION: Patients with a thicker SCM, lower birth weight, and history of breech delivery had a longer rehabilitation duration.

Magnetic Resonance Imaging as a Determinant for Surgical Release of Congenital Muscular Torticollis: Correlation with the Histopathologic Findings

OBJECTIVE: (1) To present the magnetic resonance imaging (MRI) findings of congenital muscular torticollis (CMT) of subjects who underwent surgical release and subjects who showed a good prognosis with stretching exercises and (2) to correlate the MRI findings with the histopathologic findings of CMT for subjects who underwent surgical release in order to examine the hypothesis that the MRI findings of CMT can be used as a determinant to perform surgical release of CMT. METHOD: The neck MRI findings of 33 subjects who underwent surgical release for CMT were compared with those of 18 subjects who were successfully managed only with conservative management. The MRI findings were correlated with the histopathologic sections of the CMT mass. RESULTS: All 33 subjects (100%) who underwent surgical release showed one or more low signal intensities within the involved sternocleidomastoid muscle (SCM) on the T1- and T2-weighted images of neck MRI. The eighteen non-surgical candidates showed only enlargement of the SCM without low signal intensity within the SCM. The histopathologic findings showed interstitial fibrosis and/or the presence of aberrant tendon-like excessive dense connective tissue that was either well-arranged or disorganized. CONCLUSION: The histopathologic findings and MRI findings showed good correlation in terms of the amount of fibrosis and aberrant dense connective tissue within the SCM. If multiple or large low signal intensities within the SCM are noted, we think that surgical release should be considered.

Comparison of Clinical Severity of Congenital Muscular Torticollis Based on the Method of Child Birth

OBJECTIVE: To compare the clinical severity of congenital muscular torticollis (CMT) based on the method of child birth. METHOD: Children diagnosed with CMT and who were or =6-months-of-age at the time of the first visit. RESULTS: One hundred seventy eight subjects with CMT were enrolled. There was no significant difference in the rate of surgical release according to the method of child birth. For 132 patients <6-month-of-age there was also no significant difference in the rate of stretching exercises. CONCLUSION: There was no significant difference in the clinical severity of CMT based on the method of child birth. This finding suggests that prenatal factors alone could be a cause of CMT and that the clinical severity of CMT in children delivered by Cesarean section is not different when compared with the severity of CMT in children born through vaginal delivery.

Torcicolo congênito: avaliação de dois tratamentos fisioterapêuticos / Congenital torticollis: evaluation of two physiotherapeutic approaches

OBJETIVO: Avaliar a evolução clínica e comparar a eficácia do tratamento fisioterapêutico intensivo ou mínimo, em neonatos e lactentes com torcicolo congênito. MÉTODOS: Foram atendidas no Ambulatório de Fisioterapia e Cirurgia Pediátrica do Hospital de Clínicas da Universidade Estadual de Campinas 47 crianças com torcicolo congênito. Analisaram-se, retrospectivamente, antecedentes maternos, neonatais, apresentação clínica e tratamento fisioterapêutico, classificado de acordo com a freqüência das sessões. O tratamento intensivo foi definido como sessões de fisioterapia realizadas pelo fisioterapeuta no ambulatório, acrescidas de exercícios diários realizados pelos pais em domicílio. O tratamento mínimo foi considerado quando apenas o fisioterapeuta realizava as sessões semanalmente no ambulatório, sem a participação dos pais. RESULTADOS: Quanto às características demográficas da população, observou-se: idade média materna=26 anos; parto normal=40 (85 por cento); mães primigestas=35 (75 por cento); idade média ao diagnóstico=50 dias. A presença de nódulo intramuscular foi notada em 46 (98 por cento) pacientes. As seguintes doenças estiveram associadas: luxação congênita de quadril igual=4 (8 por cento); fratura de clavícula=2 (4 por cento); pé torto congênito=1 (2 por cento). O tratamento intensivo foi realizado em 34 (72 por cento) pacientes e a cura observada em 100 por cento, após 74 dias, em média. O tratamento mínimo foi aplicado em 13 (28 por cento) pacientes e a cura observada em dez (77 por cento), tratados em média por 130 dias. CONCLUSÕES: O torcicolo congênito apresentou evolução clínica favorável em ambos os grupos. O tratamento intensivo propiciou maior índice de cura em menor tempo de tratamento.

OBJECTIVE: To evaluate the clinical course and to compare the effectiveness of physiotherapeutic treatment performed daily or once a week in newborns and infants with congenital torticollis. METHODS: 47 patients with congenital torticollis were assisted at the Physiotherapy and Pediatric Surgery Services of the Clinical Hospital of Campinas University. The following data were retrospectively collected: maternal and neonatal history, clinical presentation and physiotherapeutic treatment classified according to the frequency of the exercises. Intensive treatment was defined as sessions performed at the daycare clinic by the physiotherapist plus daily sessions performed by parents at home. Minimal treatment was defined as weekly sessions performed only by the physiotherapist at the daycare clinic, without participation of the parents. RESULTS: The demographic characteristics of the studied patients were: mean maternal age=26 years; first gestation=35 (75 percent); vaginal delivery=40 (85 percent); mean age at diagnosis =50 days. A sternomastoid nodule was felt seen in 46 (98 percent) patients. Diseases associated with congenital torticollis were: congenital hip dislocation=4 (8 percent); fracture of clavicles=2 (4 percent); and club feet=1 (2 percent). Intensive treatment was performed in 34 (72 percent) patients for an average of 74 days and the cure was achieved in 100 percent. Minimal treatment was performed in 13 (28 percent) for an average of 130 days and ten (77 percent) patients achieved cure. CONCLUSIONS: Congenital torticollis had favorable outcome in both groups. The intensive treatment was followed by higher rates of cure in smaller period of time.