Progressive outer retinal necrosis syndrome as an early manifestation of human immunodeficiency virus infection.

Progressive outer retinal necrosis syndrome is a recently recognized variant of necrotizing herpetic retinopathy, developing in patients with acquired immune deficiency syndrome (AIDS) or other conditions causing immune compromise. We report a case in which the diagnosis of retinal necrosis syndrome was made before the diagnosis of AIDS was confirmed. A 41-year-old man presented with a 1-month history of blurred vision in his left eye. Ophthalmologic examination revealed extensive retinal necrosis with total retinal detachment in his left eye and multifocal deep retinal lesions scattered in the posterior fundus as well as in the peripheral retina in his right eye. The serologic test for human immunodeficiency virus (HIV) was positive. Despite intravenous acyclovir treatment for 1 week, the lesions in the right eye showed rapid progression. High doses of intravitreal ganciclovir were then given in addition to intravenous acyclovir. After combined treatment for 1 month, the lesions became quiescent and the visual acuity improved to 20/30. Although the patient soon developed full-blown AIDS, the vision in his right eye remained undisturbed. Physicians should suspect progressive outer retinal necrosis syndrome in any patient with rapidly progressive necrotizing retinopathy and test the patient for HIV infection. Aggressive combined antiviral agent therapy should be considered to save vision.     

A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma.

Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149). We anticipate that only when the molecular basis is delineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum.     

Pathological characteristics of cervical adenocarcinoma in a multi-center US-based study

OBJECTIVE: Difficulties in detecting cervical adenocarcinoma early are well known. We report a detailed pathology review of cervical adenocarcinoma subtypes, comparing growth patterns and appearance of non-neoplastic epithelium to inform possible clues for disease progression and early detection. METHODS: This analysis includes 154 women aged 18-69 years and diagnosed with incident in situ or invasive adenocarcinoma (AC), adenosquamous (AS), or other rare cervical glandular tumors from 1992-1996 in six U.S. medical centers. A pathology review panel evaluated histological features from original diagnostic slides. RESULTS: Higher tumor grade (P < 0.001) and vascular invasion (P = 0.002) were more common in AS compared to AC. Adenocarcinoma in situ (AIS) was also more common among AC than AS (P = 0.002). Among AC with cervical intraepithelial carcinoma (CIN), AIS and cribriform patterns were more common than AC without CIN (P = 0.01). Further, non-endometrioid AC had higher tumor grade (P = 0.01) and stromal responses (P = 0.02) than endometrioid AC. Finally, although microglandular hyperplasia is historically thought to be related to oral contraceptive (OC) use, our data do not support this notion. CONCLUSION(S): AS appears to be either diagnosed later or histologically more aggressive than AC, and among AC subtypes, there are distinct histologic characteristics. Further research is needed to identify precursor lesions for early detection of AC and particularly for AS where AIS may not be a common precursor.     

A patient with extensive blue rubber bleb nevi associated with multiple congenital anomalies: an overlap or a new syndrome?

We report a case of a 13 year old boy with non-familial, multiple blue rubber bleb nevi (BRBN). He also had additional dysmorphic anomalies including a low hairline, low set ears, narrow nares, ptosis, hypotelorism, a high arched palate and downward slanting of the outer canthi. Skeletal deformities included a short, slightly webbed neck, kyphosis, cubitus valgus, non-traumatic luxation of the head of the right radius and a short left little and index fingers. He had no evidence of gastrointestinal lesions or bleeding, congenital heart or renal disease or enchondromata. The boy was mentally slow compared to his peers. He had normal chromosomes. The absence of gastrointestinal bleeding or iron deficiency anaemia is inconsistent with Bean's syndrome and the lack of enchondromata in this patient militates against the diagnosis of classical Maffucci syndrome. Some of his physical features are obviously similar to those observed in a Noonan's syndrome yet the presence of extensive BRBN would be an extremely unusual finding. Since the overall picture does not fit into any of the classical categories mentioned above, the constellation of his features has yet to find a specific syndrome. It may, however, represent an overlap between them or, possibly, a new syndrome.     

Retinal detachment in association with pre-eclampsia, eclampsia, and HELLP syndrome

Objective

To review case reports of retinal detachment in women with pre-eclampsia/eclampsia.

Methods

Medline was searched for case reports of retinal detachment associated with pre-eclampsia/eclampsia. Articles written in English, Spanish, or Portuguese and published between 1990 and 2010 were reviewed.

Results

A total of 28 cases of retinal detachment were identified; 15 were associated with severe pre-eclampsia (3 of these probably had hemolysis, elevated liver enzymes, and low platelets [HELLP] syndrome), 9 with HELLP syndrome, 2 with eclampsia, and 2 with both HELLP syndrome and eclampsia. The majority (60%) of women were nulliparous, 4 had abruptio placentae, and cesarean delivery was performed in 76%. Retinal detachment was bilateral in 89% and associated with delivery of the fetus in 96%; 69% were diagnosed postpartum. Within 2-12 weeks postpartum, all patients had complete recovery of vision with clinical management.

Conclusion

Retinal detachment in pre-eclampsia/eclampsia might be associated with HELLP syndrome, indicating that microangiophatic hemolysis might have a role in the pathophysiology of retinal detachment. Its occurrence might not be correlated with the severity of pre-eclampsia because pre-eclampsia is a constellation of signs and symptoms (persistent vasospasms with hemolysis and hypoalbuminemia) rather than simply being hypertension.     

Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report

BackgroundTurner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis.CaseA 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH.Summary and ConclusionEarly diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications.     

Bilateral thalamic lesions in a newborn with intrauterine asphyxia after maternal cardiac arrest--a case report with literature review.

Hypoxic-ischemic brain damage in preterm and term infants is one major cause of neonatal neurologic morbidity. Depending on the gestational age and the extent of hypoxia, different pathologic findings have been observed. Hypoxic-ischemic lesion of the thalamus is the least common form of cerebral injury. Although long-term outcome with spastic or extrapyramidal cerebral palsy is known, clinical features in the neonatal period are not well described.We report an infant with bilateral hypoxic-ischemic thalamic lesions after maternal cardiac arrest at 28 weeks of gestation. Clinical features and diagnostic results of our patient are compared to information given in the literature to define the clinical entity of hypoxic-ischemic thalamic lesions in neonates better.     

Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins

We report a pair of monozygotic twins with unusual facies and hypoplastic thumbs associated with progressive spinal fusion and joint immobility. The radiographic features were neither consistent with the multiple synostosis syndrome of Herrmann, nor with the spondylocarpotarsal synostosis syndrome. The overall spinal radiographic abnormalities seen in our patients were suggestive of an exceptionally early onset of Forestier disease (anterolateral, perivertebral, ligament ossification), but the thumb hypoplasia and pterygium colli are not seen in that condition. We report what might be a novel genetic entity.     

3-M syndrome: a report of three Egyptian cases with review of the literature

The 3-M syndrome is a rare autosomal recessive disorder. It is characterized by prenatal and postnatal growth retardation associated with characteristic features. In this study, we report on three patients from two unrelated families, including two male sibs, with the characteristic features and radiological findings of the 3-M syndrome. The main features in our cases were low birth weight, short stature, malar hypoplasia, anteverted nostrils with a fleshy nasal tip, long philtrum, pointed full chin, short broad neck, broad chest with transverse grooves of anterior thorax and hyperlordosis. An orodental examination revealed characteristic findings, some of which were not reported before. Prominent premaxilla, hypoplastic maxilla, thick patulous lips, high-arched palate, median fissured tongue, delayed eruption of teeth with enamel hypocalcification and malocclusion were present in our three studied cases. Radiographic studies showed slender long bones and ribs, a narrow pelvis and foreshortened vertebral bodies. Our reported cases are the offspring of healthy consanguineous parents, confirming the autosomal recessive pattern of inheritance in the syndrome. Cases were reported from different countries all over the world. To our knowledge, these are the first reported Egyptian patients with this rare disorder. This syndrome may be underreported because of the phenotypic overlap with other low birth dwarfism syndromes. Recent identification of a gene mutated in some cases of 3-M syndrome will aid diagnosis.     

Clinical characteristics of tricho-rhino-phalangeal syndrome type I in Taiwanese.

Tricho-rhino-phalangeal syndrome type I (TRPS-I) is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. Only one case of TRPS-I has been previously reported in Taiwan. This retrospective study analyzed the clinical, roentgenographic, and histopathologic findings in seven patients with a diagnosis of TRPS-I who were treated at a hospital in Tainan during a 6-year period from 1994 to 1999. Physical examination revealed fine, sparse, and short scalp hair, a pear-shaped nose, long philtrum, thinning of the lateral portion of the eyebrows, and brachydactyly of the thumbs and big toes. The stature and intelligence of these patients were normal. Histopathologic examination of the scalp in two patients showed hypotrichosis without inflammation or scarring. Roentgenographic evaluation of both hands and feet showed cone-shaped proximal epiphyses of the middle phalanges in all patients. The findings of this report suggest that TRPS-I is not rare among Taiwanese, although the island-wide incidence is not known. The diagnosis of this syndrome in our department was greatly facilitated by our prior experience with treatment of the first patient in this series because TRPS-I is readily recognizable by its characteristic clinical and roentgenographic features. The identification of these features is important to the facilitation of genetic and cosmetic counseling. In addition to the typical craniofacial manifestations, all patients in this study showed brachydactyly of the big toes. This additional feature appears to offer an easy way to recognize the syndrome clinically.     

A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia.

We report on a 15-year-old girl with severe pre- and post-natal growth retardation, poorly muscled build, micrognathia, ulnar ray oligodactyly, absent clavicles, abnormal scapulae, humeroradial fusion, hip dislocation, small iliac wings, slender tubular bones and normal intelligence. An extensive search has failed to ascribe this association to a known condition. This child shared some clinical and radiological features with the Yunis-Varon syndrome but the normal intelligence and the ulnar ray oligodactyly of our patient does not support this diagnosis.     

Loose anagen hair syndrome associated with colobomas and dysmorphic features

Loose anagen hair syndrome is an uncommon congenital disorder. It may occur in association with other syndromes and dysmorphic features. We report a girl who fulfilled the diagnostic criteria for this syndrome as proposed by Tosti (Arch Dermatol 2002, 138: 521-522). She also had several other anomalies including colobomas. We suggest that the combination of features in this patient may constitute a specific syndromic phenotype.     

Carney complex--an unexpected finding during puerperium

Carney complex is an extremely rare, autosomal dominant, multi-system disorder characterized by multiple neoplasias and lentiginosis. The genetic defect responsible for this complex has been localized to the short arm of chromosome 2 (2p16). The most prevalent clinical manifestations in patients with Carney complex are spotty skin pigmentation, skin and cardiac myxomas, Cushing's syndrome and acromegaly. Here we report the case of a 31-year-old woman with a spontaneous pregnancy. At 32 weeks of gestation, she was admitted to our Department of Obstetrics with hypertension and severe back pain. In addition, she had unusual pigmentation and typical cushingoid features. One day after admission, the pregnancy was terminated by emergency cesarian section because of preeclampsia and pathological CTG. During the postoperative period the severe back pain persisted, and radiographic evaluation revealed a collapse of L(2)/L(3) with severe osteopenia. A CT scan showed a mass in the right suprarenal area. Histopathological examination revealed a primary pigmented nodular adrenocortical disease. After biochemical confirmation of the diagnosis of Cushing's syndrome, it was recognized that the patient met the diagnostic criteria for Carney complex.     

Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile

We describe a patient presenting with a combination of dental agenesis, agenesis of the distal phalanx of the fifth finger, small, dystrophic toenails, permanent facial erythema, short stature and mild mental retardation. The neuropsychological profile of this patient which was studied in detail and showed a significant discrepancy between verbal and performance IQ. We discuss the differential diagnosis of this case and conclude that our patient's condition could represent a new syndrome.     

Ovarian masses during adolescence: clinical, ultrasonographic and pathologic findings, serum tumor markers and endocrinological profile.

This retrospective study was undertaken to assess the epidemiological and clinical features, laboratory findings, preoperative work-up, surgical treatment and pathologic findings in adolescents with ovarian cysts. All adolescents who were referred to our institution and had been operated on because of a diagnosed ovarian mass, from January 1997 to June 2003, were included in this study. Forty-four cases of women with an ovarian mass were retrospectively analyzed. These patients, aged between 12 and 21 years, had 47 ovarian masses (three patients had bilateral lesions), of which 49% were non-neoplastic and 51% were neoplastic. Of the neoplastic lesions, 62.5% were germ cell tumors, 20.8% were epithelial and 16.7% were sex cord-stromal tumors. Of the neoplastic tumors, 95.8% were benign while 4.2% were malignant. Procedures included 30 operative laparoscopies (68.20%) and 14 exploratory laparotomies (31.8%). Simple excision of the ovarian cyst was performed in 39 cases (88.6%). According to our study, most of the adolescents with an ovarian cyst underwent an operation because of a neoplastic lesion. The majority of ovarian tumors occurring in adolescents are non-epithelial in origin, and germ cell tumors are the most common histological type. Ultrasound examination is one of the most important diagnostic tools. Preoperative diagnostic approach of these patients should always include careful history taking, physical examination, imaging and evaluation of serum assays. Gynecologists who care for young girls must be familiar with the differential diagnosis of ovarian masses whose surgical treatment should be conservative when appropriate, so that hormonal status and future fertility are not compromised in this group of patients.     

Mucinous cystadenoma in a female patient with 45,X/46,XY karyotype

The mosaic karyotype of 45,X/46,XY has a wide phenotypic spectrum and there are substantial differences between prenatally and postnatally diagnosed cases. The phenotype varies between normal male to classical Turner syndrome. There is a high risk of gonadal tumor development in the dysgenetic gonads of patients with sex chromosome mosaicism. We report a case of a 24-year-old patient with a pelvic mass and amenorrhea referred to our laboratory for karyotyping. Peripheral blood chromosome analysis showed a mosaic karyotype of 45,X[17]/46,XY[83]. The tumor originated from the left ovary and the right ovary was found to be a streak gonad. The uterus was intact. Pathologic examination of the tumor revealed mucinous cystadenoma. Physical examination of the patient showed signs of Turner syndrome, as short stature (145 cm), short neck and asymmetric shoulders. Her mental state was normal. Y chromosome microdeletion screening involving SRY and ZFY genes was performed and no deletion was found. The patient was informed about the condition during the genetic counseling session.     

Ovarian and juxtaovarian adenomatoid tumors: a report of six cases.

Five ovarian adenomatoid tumors and one juxtaovarian tumor of this type in women 23 to 79 (average 54) years of age are described. Four were less than or equal to 7 mm in diameter; the other two were 1.4 cm and 5 cm. The five ovarian tumors were located predominantly in the hilus, with focal extension into the medulla. Microscopic examination showed the lesions to be characterized by round, oval, or elongated tubules, some of which were cystically dilated, and vacuoles occasionally containing basophilic secretion. Hyaline bodies were present in one case. Follow-up in these cases and the 10 previously reported similar cases that include follow-up information has been benign. The microscopic features of the ovarian adenomatoid tumor are typically diagnostic, but, as illustrated by one of our cases and another in the literature, some features that simulate those of yolk sac tumor may cause diagnostic difficulty when the tumor occurs in a young patient.     

Evaluation and treatment of early hemorrhage of the alimentary tract after selective shunt procedures

The cause and treatment of early variceal bleeding in 15 patients who had undergone distal splenorenal shunt were reviewed. Eight of these patients were taken from a group of 91 who underwent selective shunts from July 1983 through June 1985 and had extensive preoperative and postoperative evaluation of shunt patency and pressure gradient. Seven patients operated upon before July 1983 were reviewed because they illustrate the cause, diagnosis, successful and unsuccessful management of bleeding after selective shunt. Urgent selective arteriography combined with shunt catheterization is the key diagnostic and therapeutic maneuver. Thrombosis of the shunt can be successfully managed by revising the anastomosis. Stenosis of the shunt can be successfully treated with balloon dilation or operative revision of the anastomosis. When renal vein hypertension (RVH) occurs, there might be inadequate decompression of the varices. A gradient of 10 millimeters of mercury or greater from left renal vein to vena cava is diagnostic. Measurements of 30 patients who had no bleeding and one patient with documented RVH show the gradient decreases over time. Treatment should be supportive until this adaptation occurs. Hemorrhage can also occur in patients with a patient shunt but without a significant pressure gradient. Inadequate decompression of the varices through the short gastric veins leading to the spleen has been proposed as one cause. Termed short gastric hypertension, this syndrome could be expected to parallel RVH because the venous collaterals will enlarge and eventually decompress the varices. Treatment should be aimed toward supporting the patient until this adaptation occurs. A small number of patients continue to bleed despite these therapeutic interventions but can sometimes be salvaged with a total shunt.     

Description of a new syndrome: auricular abnormalities and cleft lip in two sibs, in association with cleft palate and unusual opthalmological findings

We describe the association of auricular abnormalities and cleft lip with or without cleft palate in two siblings. One sibling has postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus of 23 weeks gestation with severe cleft lip, cleft palate and external ear abnormalities. As this constellation of features has not been described together before, we believe this is a new syndrome.     

Azoospermie et tétrasomie 48,XXYY : quelle prise en charge de l’infertilité ?

48,XXYY syndrome is a rare form of sex chromosomal aneuploidy. Usually considered as a variant of Klinefelter syndrome because of shared features (azoospermia, tall stature, hypergonadotropic hypogonadism), it is a separate entity because diagnostic is currently made in prepubertal boy with neuro-psychological disorders. We here report the case of a 48,XXYY patient consulting for adult infertility and the indication to perform testicular sperm extraction is discussed.