Noonan syndrome is characterized by a Turner-like phenotype and a normal karyotype associated with congenital abnormalities, such as short stature, variable mental retardation, hypertelorism, webbed neck, low posterior hair line, skeletal malformation and congenital cardiovascular defect. Two third of Noonan syndrome have cardiac anormalies, half with pulmonary stenosis. We have experienced two cases of pulmonary stenosis associated with other cardiac anomalies in Noonan syndrome. The first 31-year-old male patient had characteristic appearance of Noonan syndrome with severe infundibular pulmonic stenosis and patent foramen ovale. The second 28-year-old male patient had valvular and subvalvular pulmonary stenosis with typical Noonan's face and stature. Pulmonary valvotomy and hypertrophied muscle bundles in the right ventricular cavity were resected in both cases. Patent foramen ovale was closed directly in the first case. Postoperative follow-up examinations revealed no symptoms and successful outcome.
Adult ; Congenital Abnormalities ; Follow-Up Studies ; Foramen Ovale, Patent ; Hair ; Humans ; Hypertelorism ; Intellectual Disability ; Karyotype ; Male ; Neck ; Noonan Syndrome* ; Phenotype ; Pulmonary Subvalvular Stenosis ; Pulmonary Valve Stenosis

No abstract available.
Balloon Valvuloplasty* ; Pulmonary Valve Stenosis* ; Pulmonary Valve*

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

No abstract available.
Mitral Valve Stenosis* ; Pulmonary Infarction*

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

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

No abstract available.
Heart Septal Defects, Ventricular* ; Pulmonary Valve Stenosis*

The multiple lentigines syndrome or LEOPARD syndrome is an autosomal dominantly inherited disorder with a variety of abnormalities and a familial occurrence. This syndrome is characterized by the presence of numerous dark brown macules on the skin but not the mucous surface, and by a marked increase in the number of lentigines from birth to puberty. The eponym LEOPARD stands for lentigines, EKG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. We report a case of multiple lentigines syndrome in 7-year-old boy. He had numerous pinhead to pea sized, dark brownish macules scattered on the entire body and also had pulmonary stenosis, EKG abnormality, ocular hypertelorism and right exotropia. Interestingly, he also had a labial melanotic macule on the lower lip, which is usually spared in the multiple lentigines syndrome. Histologically, the biopsy specimen taken from the macule revealed an elongation of rete ridges, an increase of melanin pigments in the basal layer and mild inflammatory infiltrates intermingled with the melanophages in the upper dermis.
Adolescent ; Biopsy ; Child ; Deafness ; Dermis ; Electrocardiography ; Eponyms ; Exotropia ; Genitalia ; Humans ; Hypertelorism ; Lentigo ; LEOPARD Syndrome* ; Lip ; Male ; Melanins ; Panthera ; Parturition ; Peas ; Puberty ; Pulmonary Valve Stenosis ; Skin

Multiple lentigines syndrome is characterized by the presence of numerous dark brown macules on the skin but not mucous surfaces and known also by the mnemvnic "LEOPARD syndrome" are, besides the lentigines, electrocardiographic conduction defect, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia consisting of gonadal or ovarian hypoplasia, retardation of growth, deafness and inherited by autosomal dominant trait. We experienced a case of multipIe lentigine syrrdrome in 20-year old woman. She had numerous pinhead to pea sized, dark brownish macules on the entire body skin a,nd had no associated anomalies of other organ. On laboratory examinations including the CBC, urinalysis., chest X-ray, EKG; EEG, Hormone assay was all normal except for the slight anemic finding. On histologic examina,tion of biopsied macular skin showed a slight elongation of rete ri.dges, an increase in the concentration of melanocyte in the basal layer and mild inflammatory infiltration in the upper dermis. Treatment was done by cryotherapy on the face with marked improvement.
Cryotherapy ; Deafness ; Dermis ; Electrocardiography ; Electroencephalography ; Female ; Genitalia ; Gonads ; Humans ; Hypertelorism ; Lentigo ; LEOPARD Syndrome* ; Melanocytes ; Peas ; Pulmonary Valve Stenosis ; Skin ; Thorax ; Urinalysis ; Young Adult