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INTRODUCTION: Pituitary apoplexy (PA) in Cushing's disease (CD) is rare with data limited to case reports/series. METHODS: We retrospectively reviewed case records of PA in CD managed at our center from 1987 to 2023 and performed a systematic literature review. RESULTS: We identified 58 patients (44 females), including twelve from our center (12/315 CD, yielding a PA prevalence in CD of 3.8%) and forty six from systematic review. The median age at PA diagnosis was 35 years. The most common presentation was type A (79.3%) and symptom was headache (89.6%), with a median Pituitary Apoplexy Score (PAS) of 2. Median cortisol and ACTH levels were 24.9 µg/dl and 94.1 pg/ml, respectively. Apoplexy was the first manifestation of underlying CD in 55.2% of cases, with 31.1% (14/45) presenting with hypocortisolemia (serum cortisol ≤ 5.0 µg/dl), underscoring the importance of recognizing clinical signs/symptoms of hypercortisolism. The median largest tumor dimension was 1.7 cm (53/58 were macroadenomas). PA was managed surgically in 57.8% of cases, with the remainder conservatively managed. All five PA cases in CD with microadenoma achieved remission through conservative management, though two later relapsed. Among treatment-naïve CD patients with macroadenoma, PA-related neuro-deficit improvement was comparable between surgical and conservative groups. However, a greater proportion of surgically managed patients remained in remission longer (70% vs. 38.5%; p = 0.07), for an average of 31 vs. 10.5 months. CONCLUSION: PA in CD is more commonly associated with macroadenomas, may present with hypocortisolemia, and surgical treatment tends towards higher and longer-lasting remission rates.
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Hipersecreção Hipofisária de ACTH , Apoplexia Hipofisária , Humanos , Apoplexia Hipofisária/epidemiologia , Apoplexia Hipofisária/patologia , Hipersecreção Hipofisária de ACTH/diagnóstico , Feminino , Estudos Retrospectivos , Adulto , Masculino , Pessoa de Meia-Idade , Hidrocortisona/sangue , Hormônio Adrenocorticotrópico/sangue , Hormônio Adrenocorticotrópico/metabolismoRESUMO
CONTEXT: The relative recurrence risk ratio (λR ) for Hashimoto's thyroiditis (HT) has not been widely studied. The age at which thyroid function evaluation should be initiated for relatives of HT patients remains unclear. OBJECTIVE: To study λR and age-related prevalence of HT in first-degree relatives of HT patients. METHODS: First-degree relatives (n = 861) of 264 HT patients were evaluated for goitre, thyroid function tests, thyroid antibodies (TAb) and urinary iodide concentration (UIC). HT was defined as TAb positivity and hypothyroidism (subclinical/overt). λR was calculated as {number of index patients whose relatives (of particular subtype) had HT/number of index patients having relatives of same subtype}÷ population prevalence of HT (5·1%). The age-related prevalence of HT was studied using Kaplan-Meier method. RESULTS: A total of 861 relatives (205 parents, 336 siblings and 320 offspring) participated in the study. About 38·3% were TAb positive. The prevalence of HT was 16·7% (22·9% in parents, 19·6% in siblings and 9·6% in offspring). TAb positivity (48·3% vs 33·1%) and HT (23·5% vs 13·6%) were significantly more common in the goitrous group (n = 267) vs nongoitrous group. The median UIC for the study population was 182·5 µg/l. Computed λR was 9·1 for any one relative being affected, 5·9 for parents, 6·3 for siblings and 3·1 for offspring. The prevalence of HT increased with age and exceeded the adult population prevalence of 5·1% at 20 years in females and 27 years in males. CONCLUSIONS: Relatives of HT patients have a ninefold increased risk for developing HT as compared to the general population. The risk of developing HT exceeds that of the general population at 20 years in females and 27 years in males.
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Saúde da Família , Doença de Hashimoto/epidemiologia , Adolescente , Adulto , Fatores Etários , Anticorpos/sangue , Criança , Suscetibilidade a Doenças , Feminino , Doença de Hashimoto/diagnóstico , Doença de Hashimoto/patologia , Humanos , Masculino , Razão de Chances , Prevalência , Recidiva , Fatores Sexuais , Glândula Tireoide/imunologia , Adulto JovemRESUMO
BACKGROUND: Granulosa cell tumours of the ovary are rare, hormonally active, oestrogen-secreting tumours of the ovary existing in two forms: the adult form and the even rarer juvenile form. These tumours present as predominantly solid lesions while the cystic, unilocular presentation is uncommon. CASE REPORT: We present an 18-year-old unmarried girl who presented with complaints of chronic pain, abdominal distension and presence of facial hair. Radiological examination revealed a large, purely cystic, unilocular lesion without any solid components, debris or septations. Histopathological diagnosis was of a juvenile granulosa cell tumour. CONCLUSIONS: Radiological criteria suggestive of malignant ovarian masses include thick, irregular walls and septae; papillary projections and solid, echogenic foci. Nonetheless, we propose that a malignant ovarian lesion should be included in the differential diagnosis of a unilocular, purely cystic ovarian lesion.
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BACKGROUND: Chronic hypokalemia is known to induce renal structural and functional abnormality. The former includes induction of renal cyst formation and interstitial fibrosis while the latter entails urine-concentrating defect. However, these hypokalemia-mediated changes occur in a handful of conditions including primary aldosteronism, distal renal tubular acidosis, Liddle's disease, apparent mineralocorticoid excess syndrome and Bartter's type 3 syndrome. Such a finding has never been described in an 11 beta-hydroxylase deficient individual. CASE REPORT: We describe a case of a 15-year-old male, deficient in 11 beta-hydroxylase enzyme, presenting with hypertensive haemorrhage in basal ganglia and chronic hypokalemia-mediated nephrocalcinosis and renal cysts. To add to the uniqueness, our patient was discovered to harbour bilateral testicular adrenal rests as well. CONCLUSIONS: An early diagnosis could help prevent these sequelae and preserve long-term renal function and safeguard against ill-effects of hypertension. Besides, aetiology of nephrocalcinosis should be sought for and corrected.
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BACKGROUND: An association between chronic hyperaldosteronism and medullary nephrocalcinosis has rarely been made, with only a handful of cases described in literature. CASE REPORT: We describe five cases of hyperaldosteronism with a long- standing history in whom associated medullary nephrocalcinosis was established. CONCLUSIONS: We infer that a chronic hyperaldosteronic status, whether primary or secondary, is a causal factor in the etiopathogenesis of medullary nephrocalcinosis. This article illustrates and summarizes various postulated theories that support our proposed association between hyperaldosteronism and nephrocalcinosis. We conclude that chronic hyperaldosteronism should be included as one of the causes of nephrocalcinosis and that our case series emphasizes the need of a well-organized retrospective study to prove it further.
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BACKGROUND: The role of radiology is of utmost importance not only in diagnosing s-OHSS but also in ruling out other cystic ovarian diseases and to determine the underlying etiology and course of the disease. We presented a radiological algorithm for diagnosing the various causes of s-OHSS. CASE REPORT: A 26-year-old female, gravida one was referred to radiology department with history of lower abdominal pain, nausea and vomiting since 2 days which was gradual in onset and progression. The patient had no significant medical and surgical history. CONCLUSIONS: This article illustrates and emphasizes that diagnosis of s-OHSS and its etiology can be completely evaluated radiologically. Biochemical markers will confirm the radiological diagnosis.
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The superior lumbar triangle is formed by the erector spinae muscles medially, internal oblique muscles laterally and the 12th rib superiorly. Herniation through this triangle can be congenital or acquired (primary or secondary). The contents of the hernial sac commonly include retroperitoneal fat, kidneys, ascending or descending colon, small intestines, stomach, spleen, etc. We present a case of an infant with congenital herniation of the left kidney through the superior lumbar triangle with an incidentally detected closed spinal tube defect. The anatomy of the lumbar triangle and a literature review of the associated hernia have been briefly described in this article.
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Nefropatias , Humanos , Lactente , Nefropatias/congênito , Nefropatias/diagnóstico por imagem , Hérnia/diagnóstico por imagem , Hérnia/complicações , Hérnia/congênito , Vértebras Lombares/diagnóstico por imagem , Masculino , Defeitos do Tubo Neural/complicações , Defeitos do Tubo Neural/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Região Lombossacral/diagnóstico por imagem , Rim/anormalidades , Rim/diagnóstico por imagem , Músculos Paraespinais/diagnóstico por imagem , Músculos Paraespinais/patologia , FemininoRESUMO
PMDS (persistent Müllerian duct syndrome) is a rare disorder of sex development characterised by the presence of Müllerian duct remnants in a phenotypically male individual with a 46XY karyotype. Radiological investigations play a crucial role in diagnosing and characterising this condition. Ultrasound and MRI are the modalities of choice. They help to non-invasively localise the gonads and Müllerian duct derivatives. Broadly, PMDS has two anatomical variants: male type and female type. The case report presented here does not fit into these classically described variants and can be called a variant of the female type. There is a risk of infertility and malignant transformation of undescended testis and Müllerian duct derivatives in cases of PMDS. Hence, management is focused on preventing these risks. Surgical intervention involves orchidopexy, removal of Müllerian duct derivatives and inguinal hernia repair.
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Criptorquidismo , Transtorno 46,XY do Desenvolvimento Sexual , Hérnia Inguinal , Humanos , Hérnia Inguinal/cirurgia , Hérnia Inguinal/complicações , Hérnia Inguinal/diagnóstico , Masculino , Criptorquidismo/cirurgia , Criptorquidismo/diagnóstico , Criptorquidismo/complicações , Transtorno 46,XY do Desenvolvimento Sexual/cirurgia , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Transtorno 46,XY do Desenvolvimento Sexual/complicações , Orquidopexia/métodos , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgiaRESUMO
Rhabdomyosarcomas are the most common soft-tissue sarcomas, found usually in the younger age group. Histologically, they are subdivided into embryonal, alveolar, pleomorphic and not otherwise specified. They have a heterogenous appearance on imaging with few additional characteristic features based on the subtype. Botryoid variant of embryonal rhabdomyosarcoma commonly involves the genitourinary and the biliary system. They can be multifocal. Most of these lesions have a heterogenous appearance on imaging with areas of necrosis and haemorrhage. On ultrasound, they are polypoidal with cystic areas and are vascular. The lesions are hyperintense on T2 sequences, isointense to the skeletal muscle on T1 sequences and show heterogenous enhancement. Surgery is the mainstay of treatment along with radiotherapy or chemotherapy depending on the site and the stage of the tumour. We report a case of botryoid variant of rhabdomyosarcoma involving the vagina and the urinary bladder.
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Rabdomiossarcoma Embrionário , Neoplasias da Bexiga Urinária , Neoplasias Vaginais , Feminino , Humanos , Imageamento por Ressonância Magnética , Rabdomiossarcoma Embrionário/patologia , Rabdomiossarcoma Embrionário/diagnóstico , Rabdomiossarcoma Embrionário/diagnóstico por imagem , Rabdomiossarcoma Embrionário/cirurgia , Ultrassonografia , Neoplasias da Bexiga Urinária/diagnóstico por imagem , Neoplasias da Bexiga Urinária/patologia , Neoplasias Vaginais/patologia , Neoplasias Vaginais/diagnóstico por imagem , Neoplasias Vaginais/cirurgia , Neoplasias Vaginais/diagnóstico , Pré-EscolarRESUMO
BACKGROUND: Aromatase deficiency is a rare disorder, with only a few cases reported in India. We describe a single-center experience in western India, with a systematic review of genetically proven 46,XX aromatase deficiency patients to evaluate hormonal parameters. METHODS: Retrospective review of case records, collating phenotypic and genotypic data and molecular modeling. Systematic review of 46,XX aromatase deficiency, analyzing data on gonadotropins, estrogen and androgens. RESULTS: In the seven patients from our center, presentation was frequent in childhood or adolescence (4/7: delayed puberty or hyperandrogenism), with maternal virilization (4/7), predominance of Prader III/IV (5/7), and initial rearing as females (6/7). Three patients had hypoplastic ovaries. One patient had spontaneous regular menses. We report three novel (p.Arg115Pro, p.Arg192Pro, and c.145+1_145+4delins) and two recurrent variants (p.Val370Met, and c.145+1_145+4delins) in western and northern India, respectively. On systematic review (n=43), gonadotropins were elevated (FSH>LH) across ages (except preterm infants), androgens were elevated in about one-third of cases during childhood and puberty, and estradiol was lower than in controls in mini-puberty and puberty. Spontaneous thelarche and streak ovaries were significantly more frequent in patients with non-truncating and truncating variants, respectively. CONCLUSION: We report uncommon presentations with possible founder variants, and highlight hormonal parameters across ages. Serum FSH levels were elevated except in preterms, and can be used as a diagnostic marker.
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Transtornos 46, XX do Desenvolvimento Sexual , Aromatase/deficiência , Ginecomastia , Recém-Nascido Prematuro , Infertilidade Masculina , Erros Inatos do Metabolismo , Masculino , Lactente , Feminino , Adolescente , Humanos , Recém-Nascido , Androgênios , Hormônio Foliculoestimulante , GonadotropinasRESUMO
We report a very rare case of 35-year-old female with a giant mandibular osteoma in the angle of the mandible. We highlight the importance of CT in diagnosing as well as defining the extent of this rare case so that proper management can be undertaken. We also showcase the importance of angiography to show relationship of this mass with the surrounding vessels.
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PURPOSE: Giant prolactinomas (GP) are rare tumors accounting for 4.3% of prolactinomas, with paucity of literature from India. We aim to describe clinical, biochemical, radiological, and treatment outcomes in a large series of Asian-Indian patients with GP. METHODS: A single-center retrospective analysis of GPs (n=84), age-based (adults: 66 versus pediatric: 18) and gender-based (males: 64 versus females: 20) comparison was done. RESULTS: The mean age at presentation was 34.1±13years, and 64 (76.2%) were males. Males were younger at presentation (32.1±12.2 versus 40.1±13.8years, P: 0.01). The majority presented with mass-effect-related manifestations (visual disturbances: 91.6%, headache: 84.5%) and/or hypogonadism (98.7%). At baseline, largest tumor dimension was 5.3±1.0cm, and serum prolactin was 8343 (3865.5-12,306) ng/mL; most (94.6%) had gonadal axis involvement. Dopamine-agonist (DA) as first-line therapy (45/67, 67.2%) achieved normoprolactinemia (maximum cabergoline dose: 2.0±1.2mg/week) in 36/45 (80%) and tumor response (≥50% reduction) in 36/37 (97.3%) patients at the last follow-up (median duration: 33 [14.5-53.5]months). Notably, gonadal axis recovery was poor (6/30, 20%) despite normoprolactinemia post-DA monotherapy. At latest follow-up, secondary hypothyroidism (32.5% versus 82.6%, P: 0.001) and central hypocortisolism (5.6% versus 42.9%, P: 0.007) were less frequent in DA monotherapy (n=43) than in multimodal therapy group (n=23). The proportion of males (94.4% versus 71.2%, P: 0.04) was higher in the pediatric age group, with DA-induced (first-line) normoprolactinemia observed in 66.7% of them. CONCLUSION: GP has male predominance, DA as first-line therapy normalized prolactin in four-fifths of patients with better preservation of HPT and HPA axes in patients with DA monotherapy.
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Neoplasias Hipofisárias , Prolactinoma , Adulto , Feminino , Humanos , Masculino , Criança , Prolactinoma/tratamento farmacológico , Prolactinoma/patologia , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/tratamento farmacológico , Neoplasias Hipofisárias/epidemiologia , Estudos Retrospectivos , Prolactina/uso terapêutico , Ergolinas/uso terapêutico , Agonistas de Dopamina/uso terapêuticoAssuntos
Procedimentos Cirúrgicos em Ginecologia/métodos , Hematocolpia , Ductos Paramesonéfricos/anormalidades , Anormalidades Urogenitais , Útero , Vagina , Adolescente , Diagnóstico Precoce , Feminino , Hematocolpia/diagnóstico , Hematocolpia/etiologia , Hematocolpia/fisiopatologia , Humanos , Rim/anormalidades , Rim/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Síndrome , Resultado do Tratamento , Ultrassonografia/métodos , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/fisiopatologia , Anormalidades Urogenitais/cirurgia , Útero/anormalidades , Útero/diagnóstico por imagem , Vagina/anormalidades , Vagina/diagnóstico por imagem , Vagina/cirurgiaRESUMO
OBJECTIVE: The literature regarding gonadoblastoma risk in exonic Wilms' tumor suppressor gene (WT1) pathogenic variants is sparse. The aim of this study is to describe the phenotypic and genotypic characteristics of Asian-Indian patients with WT1 pathogenic variants and systematically review the literature on association of exonic WT1 pathogenic variants and gonadoblastoma. DESIGN: Combined retrospective-prospective analysis. METHODS: In this study, 46,XY DSD patients with WT1 pathogenic variants detected by clinical exome sequencing from a cohort of 150 index patients and their affected relatives were included. The PubMed database was searched for the literature on gonadoblastoma with exonic WT1 pathogenic variants. RESULTS: The prevalence of WT1 pathogenic variants among 46,XY DSD index patients was 2.7% (4/150). All the four patients had atypical genitalia and cryptorchidism. None of them had Wilms' tumor till the last follow-up, whereas one patient had late-onset nephropathy. 11p13 deletion was present in one patient with aniridia. The family with p.Arg458Gln pathogenic variant had varied phenotypic spectrum of Frasier syndrome; two siblings had gonadoblastoma, one of them had growing teratoma syndrome (first to report with WT1). On literature review, of >100 exonic point pathogenic variants, only eight variants (p.Arg462Trp, p.Tyr177*, p.Arg434His, p.Met410Arg, p.Gln142*, p.Glu437Lys, p.Arg458*, and p.Arg458Gln) in WT1 were associated with gonadoblastoma in a total of 15 cases (including our two cases). CONCLUSIONS: WT1 alterations account for 3% of 46,XY DSD patients in our cohort. 46,XY DSD patients harboring exonic WT1 pathogenic variants carry a small but definitive risk of gonadoblastoma; hence, these patients require a gonadoblastoma surveillance with a more stringent surveillance in those harboring a gonadoblastoma-associated variant.
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OBJECTIVE: To evaluate the pathogenic role of a few benign variants and hypomorphic pathogenic variants in SRD5A2. DESIGN AND METHODS: We retrospectively analyzed phenotypes and genotypes in 23 Indian patients with genetically proven steroid 5α-reductase 2 (SRD5A2) deficiency. The interactions of the SRD5A2 enzymes resulting due to the most common benign variant (p.Val89Leu), the most common (hypomorphic) pathogenic variant (p.Arg246Gln) and the double variants (p.Val89Leu and p.Arg246Gln) in SRD5A2 were compared with that of the wild type (WT) enzyme by molecular dynamics (MD) simulation. RESULTS: The majority (n = 19, 82.61%) of patients presented for atypical genitalia and had male gender identity (16/20). Including the two novel ones (p.Leu83Pro, p.Ala28Leufs*103), a total of nine different pathogenic variants were observed. p.Arg246Gln was the most common pathogenic variant (n = 12). Homozygous p.Arg246Gln (n = 9) variant was associated with milder undervirilization (Sinnecker score of ≤3a: 8/9 vs 6/14, P = 0.04) and had concurrent homozygous p.Val89Leu in all patients. Interestingly, asymptomatic fathers of two index patients were homozygous for p.Arg246Gln which questioned the pathogenicity of the variation as a sole factor. Unlike all symptomatic homozygous p.Arg246Gln patients who were also homozygous for p.Val89Leu, asymptomatic homozygous p.Arg246Gln fathers were heterozygous for p.Val89Leu. On MD simulation SRD5A2 p.Val89Leu-Testeosterone (T) and SRD5A2 p.Arg246Gln-T complexes, but not SRD5A2 p.Val89Leu and p.Arg246Gln-T complex, demonstrated close interaction between NADPH and T as that of SRD5A2 WT-T. CONCLUSIONS: p.Arg246Gln may not be pathogenic as a sole variation even in the homozygous state; additional contribution of homozygous p.Val89Leu variant may be essential for the pathogenicity of p.Arg246Gln in SRD5A2.
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3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Transtornos do Desenvolvimento Sexual/enzimologia , Homozigoto , Adolescente , Adulto , Criança , Pré-Escolar , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/patologia , Feminino , Identidade de Gênero , Genótipo , Humanos , Índia , Lactente , Recém-Nascido , Masculino , Simulação de Dinâmica Molecular , Mutação/genética , NADP/metabolismo , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVES: Nonalcoholic fatty liver disease (NAFLD) is commonly associated with type 2 diabetes mellitus (DM) though its prevalence is not well studied. We conducted a prospective study of prevalence and risk factors of NAFLD in patients with type 2 diabetes. RESEARCH DESIGN AND METHODS: 204 type 2 DM patients attending an out-patient diabetic clinic underwent abdominal sonography. Ninty of 127 patients with fatty infiltration on ultrasound consented for liver biopsy, clinical and biochemical workup. RESULTS: Eighty seven percent had NAFLD on histology with 62.6% steatohepatitis and 37.3% fibrosis. Age, duration of diabetes mellitus, degree of glycemic control, body mass index, waist circumference, family history of diabetes mellitus, did not predict the presence or severity of NAFLD or fibrosis. Serum alanine aminostranferase (ALT) and alkaline phosphatase levels, though within normal limits, were significantly higher in patients with steatohepatitis. Prevalence of NASH increased with increase in the components of the metabolic syndrome. Serum AST/ALT ratio were also significantly higher (p-0.049) in patients with severe fibrosis. All patients with severe fibrosis had metabolic syndrome. CONCLUSIONS: Prevalence of NAFLD and NASH in our cohort of type 2 DM patients is high and increases with multiple components of metabolic syndrome. NASH and advanced fibrosis can occur in diabetic patients without any symptoms, signs or routine laboratory test abnormalities.
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Diabetes Mellitus Tipo 2/complicações , Fígado Gorduroso/epidemiologia , Hepatite/epidemiologia , Adulto , Idoso , Estudos de Coortes , Fígado Gorduroso/diagnóstico , Feminino , Hepatite/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Adulto JovemRESUMO
Choriocarcinoma is a human chorionic gonadotrophin (HCG)-secreting tumor that comprises vascular channels. It has a tendency for widespread metastasis, common sites for which include the lung, vagina, brain, liver, bone, intestine, and kidney. We describe a 30-year-old female who presented with hepatitis-like features and bilateral diminution of vision, and subsequently developed hemothorax and hemoperitoneum-all rare and seemingly unrelated manifestations which were finally attributable to metastases from gestational choriocarcinoma. To further complicate the clinical scenario, the serum HCG of the patient was mildly raised (due to a phenomenon called hook effect). Subsequently, the patient developed disseminated intravascular coagulation and succumbed to her illness. In this report, we discuss the imaging findings of choriocarcinoma, its potential sites of metastases, and the hook effect.
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Congenital high airway obstruction syndrome (CHAOS) is a very rare entity with very poor prognosis in which upper airway is intrinsically obstructed, the most common reason being laryngeal atresia. In summary prenatal early diagnosis of patients with CHAOS is necessary so that perinatal management can be undertaken successfully or elective termination of pregnancy can be undertaken. The fetoscopic approach may be a life saving modality in a subset of CHAOS patients. Involving a multidisciplinary team comprising of paediatricians, radiologists, obstetricians and anaesthesiologists increases the efficiency of management.