No abstract available.
Atrial Fibrillation ; LEOPARD Syndrome* ; Panthera*

Hearing loss (HL) is one of the most frequent clinical manifestations of patients who suffer with multi-systemic genetic disorders. HL in association with other physical stigmata is referred to as a syndromic form of HL. LEOPARD syndrome (LS) is one of the disorders with syndromic HL and it is caused by a mutation in the PTPN11 or RAF1 gene. In general, 5 year old children who undergo cochlear implantation usually show a marked change in behavior regarding sound detection within the first 6 months of implant use, but word identification may not be exhibited for at least another 6-12 months of implant use. We herein report on a 5-year-old girl with LS. Her clinical manifestations including bilateral sensorineural HL, which indicated the diagnosis of LS. We confirmed the diagnosis by identifying a disease-causing mutation in the PTPN11 gene, which was a heterozygous missense mutation Ala461Thr (c.1381G>A). She underwent cochlear implantation (CI) without complications and she is currently on regular follow-up at postoperative 1 year. This is the first reported case of CI in a patient with LS in the medical literature.
Child ; Christianity ; Cochlear Implantation ; Cochlear Implants ; Follow-Up Studies ; Hearing ; Hearing Loss ; Humans ; LEOPARD Syndrome ; Mutation, Missense ; Panthera

LEOPARD syndrome is an autosomal dominant inherited disease with multiple congenital anomalies. LEOPARD is an acronym for Lentigines, Electrocardiographic conduction defects, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. The disorder is caused by mutations in the PTPN11 gene or RAF1 gene. Here we report two typical cases of LEOPARD syndrome with lentigines, electrocardiograph abnormality, ocular hypertelorism which were proven to be the results of genetic mutations. Moreover, one 12-year-old boy showed growth retardation, deficiency in testosterone; the other 5-year-old girl had undergone implantation of a cochlear device and was diagnosed as having hypertrophic cardiomyopathy which has been managed with a beta blocker. Each patient showed a PTPN11 gene mutation: Thr468Met in exon 12 and Tyr279Cys in exon 7, respectively.
Cardiomyopathy, Hypertrophic ; Deafness ; Electrocardiography ; Exons ; Genitalia ; Humans ; Hypertelorism ; Lentigo ; LEOPARD Syndrome ; Panthera ; Pulmonary Valve Stenosis

LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertrophic cardiomyopathy and/or cafe-au-lait macules. We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss.
Cardiomyopathy, Hypertrophic ; Deafness ; Electrocardiography ; Genitalia ; Hearing Loss, Sensorineural ; Hypertelorism ; Lentigo ; LEOPARD Syndrome ; Panthera ; Pulmonary Valve Stenosis

LEOPARD syndrome (LS) is a rare hereditary disorder in Asian countries. This syndrome consists of multiple systemic abnormalities. In particular, characteristic cardiovascular effects in LS may include variable clinical manifestations from benign to life-threatening courses. The cardiac effects of this syndrome consist of left ventricular hypertrophy (LVH), pulmonary stenosis (PS), coronary artery dilatation and electrocardiogram(ECG) abnormalities. Since there are few LS patients who have undergone a complete cardiovascular evaluation, the nature and clinical prognosis of cardiovascular abnormalities in this syndrome remain uncertain. Also, there have been few reports on therapeutic strategies for cardiovascular abnormalities in LS. Here we describe a case of LS who presented with multiple cardiovascular problems and underwent successful surgical and medical treatment.
Asian Continental Ancestry Group ; Cardiovascular Abnormalities ; Coronary Vessels ; Dilatation ; Humans ; Hypertrophy, Left Ventricular ; Lentigo ; LEOPARD Syndrome ; Panthera ; Prognosis ; Pulmonary Valve Stenosis

LEOPARD syndrome is an autosomal dominantly inherited multiple congenital anomaly syndrome with high penetrance and a markedly variable expression. LEOPARD is an acronym of lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth, and deafness. We report a typical case of LEOPARD syndrome which developed in an 11-year-old girl who had symptoms of lentigines, EKG abnormality, ocular hypertelorism, pulmonary stenosis, growth retardation, and sensorineural hearing loss.
Child ; Deafness ; Electrocardiography ; Female ; Genitalia ; Hearing Loss, Sensorineural ; Humans ; Hypertelorism ; Lentigo ; LEOPARD Syndrome* ; Panthera* ; Penetrance ; Pulmonary Valve Stenosis

Multiple lentigines syndrome is an autosomal dominant disorder of variable penetrance and expressivity. LEOPARD has been used to describe the main features of the syndrome, including lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness. We describe a case of multiple lentigines syndrome with a family history of multiple lentigines. A 15-year-old boy presented with multiple brown macules and patches on the whole body, which had developed since the age of 3. He also had hypertrophic cardiomyopathy, EKG abnormalities and retarded growth. His maternal grandfather, maternal uncle and mother also presented with multiple brown macules scattered over the body. The biopsy specimen taken from the macule revealed elongated rete ridges, increased melanin deposition and increased number of melanocytes.
Adolescent ; Biopsy ; Cardiomyopathy, Hypertrophic ; Deafness ; Electrocardiography ; Genitalia ; Humans ; Hypertelorism ; Lentigo* ; LEOPARD Syndrome ; Male ; Melanins ; Melanocytes ; Mothers ; Panthera ; Penetrance ; Pulmonary Valve Stenosis

The LEOPARD syndrome is an acronym and serves as a mnemonic for the features of this autosomal dominant syndrome : L - lentigines (multiple), E - electrocardiographic conduction abnormalities, O - ocular hypertelorism, P - pulmonary stenosis, A - abnormalities of genitalia, R - retardation of growth, and D - deafness (sensoryneural). The main features of the syndrome are multiple lentigines in combination with congenital heart malformations. These frequently accompanied cardiac abnormalities are pulmonary stenosis, hypertrophic cardiomyopathy, and various ECG abnormalities. It is advisable to make cardiac evaluation in a patient with LEOPARD syndrome in spite of no clinical symptoms or signs, since cardiac dysfunction may be progressive or developed later. We experienced a case of this syndrome in a 31 year-old female, presenting multiple lentigines, ocular hypertelorism, and congenital cardiac abnormalities of incomplete right bundle branch block and cor triatriatum. We report the case with brief literature review.
Adult ; Bundle-Branch Block ; Cardiomyopathy, Hypertrophic ; Cor Triatriatum* ; Deafness ; Electrocardiography ; Female ; Genitalia ; Heart ; Humans ; Hypertelorism ; Lentigo ; LEOPARD Syndrome* ; Panthera* ; Pulmonary Valve Stenosis

Leopard syndrome is a neurocutaneous syndrome which may affect a variety of organ systems in the embryological aspects. It presents lentigines, EKG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness as major teatures.We report a case of Leopard Syndrome with atypical psychotic features. The patient had many lentigenies on the face, cafe au lait spots on the part of the waist and the buttocks, mild atrial regugitation, clinodactyly, hyperextensibility of distal interphalangeal joint, flat foots, subclinical hypothyrodism, sensorineural deafness, and mild mental retardation. He also had autistic disorder, compulsion, pathologic collection, and violent behaviors as psychiatric problems. This raises a possibility that psychiatric diseases may be related to the variation of neuroectoderm. In clinical practice, when psychopathic patients with specific skin lesions are seen for consultation, the consideration of embryologically common aspects of both disease groups can be helpful to the discovery of abnormalities in other organs and to its treatment.
Autistic Disorder ; Buttocks ; Cafe-au-Lait Spots ; Deafness ; Electrocardiography ; Flatfoot ; Genitalia ; Humans ; Hypertelorism ; Intellectual Disability ; Joints ; Lentigo ; LEOPARD Syndrome* ; Neural Plate ; Neurocutaneous Syndromes ; Panthera* ; Psychotic Disorders* ; Pulmonary Valve Stenosis ; Skin

Leopard syndrome, a feature of a syndrome, is a acronym of Lentiginosis, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and Deafness. It is one of the autosomal dominant neurocutaneous traits accompanied by neurologic abnormality. We have experienced a case of Leopoard syndrome associated with 46,XX pure gonadal dysgenesis, which was diagnosed by laparoscopic biopsy, karyotyping, and dermatologic consultation. So we report this case with a brief review of literatures. In our knowledge, this very rare case is presented for the first time in Korea.
Biopsy ; Deafness ; Electrocardiography ; Genitalia ; Gonadal Dysgenesis* ; Gonads* ; Hypertelorism ; Karyotyping ; Korea ; Lentigo ; LEOPARD Syndrome* ; Panthera* ; Pulmonary Valve Stenosis