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1.
BMJ Case Rep ; 17(3)2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38453218

RESUMO

A late adolescent primigravida was found to have a fetus with a cystic hygroma and significant shortening of the limbs on first-trimester ultrasound. She underwent chorionic villus sampling with normal microarray result. In the early second trimester, the fetus was found to have the absence of all four limbs and a thorough skeletal dysplasia workup was pursued, identifying a variant in the FLNB gene (c.62C>G). The patient underwent termination of pregnancy. The care of this patient was expedited by first-trimester sonographic evidence of limb abnormalities enabling timely clinical management.


Assuntos
Doenças Fetais , Linfangioma Cístico , Osteocondrodisplasias , Gravidez , Feminino , Adolescente , Humanos , Doenças Fetais/genética , Primeiro Trimestre da Gravidez , Ultrassonografia , Mutação , Ultrassonografia Pré-Natal , Filaminas/genética
2.
Prenat Diagn ; 44(3): 352-356, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38342957

RESUMO

A consanguineous couple was referred at 10 weeks of gestation (WG) for prenatal genetic investigations due to isolated cystic hygroma. Prenatal trio exome sequencing identified causative homozygous truncating variants in ASCC1 previously implicated in spinal muscular atrophy with congenital bone fractures. Prenatal manifestations in ASCC1 can usually include hydramnios, fetal hypo-/akinesia, arthrogryposis, contractures and limb deformities, hydrops fetalis and cystic hygroma. An additional truncating variant was identified in CSPP1 associated with Joubert syndrome. Presentations in CSPP1 include cerebellar and brainstem malformations with vermis hypoplasia and molar tooth sign, difficult to visualize in early gestation. A second pregnancy was marked by the recurrence of isolated increased nuchal translucency at 10 + 2 WG. Sanger prenatal diagnosis targeted on ASCC1 and CSPP1 variants showed the presence of the homozygous familial ASCC1 variant. In this case, prenatal exome sequencing analysis is subject to a partial ASCC1 phenotype and an undetectable CSPP1 phenotype at 10 weeks of gestation. As CSPP1 contribution is unclear or speculative to a potentially later in pregnancy or postnatal phenotype, it is mentioned as a variant of uncertain significance. The detection of pathogenic or likely pathogenic variants involved in severe disorders but without phenotype-genotype correlation because the pregnancy is in the early stages or due to prenatally undetectable phenotypes, will encourage the clinical community to define future practices in molecular prenatal reporting.


Assuntos
Linfangioma Cístico , Gravidez , Feminino , Humanos , Linfangioma Cístico/diagnóstico por imagem , Linfangioma Cístico/genética , Diagnóstico Duplo (Psiquiatria) , Diagnóstico Pré-Natal , Feto/diagnóstico por imagem , Fenótipo , Proteínas de Transporte/genética
3.
JBJS Case Connect ; 13(4)2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-38048405

RESUMO

CASE: A 73-year-old woman, after spinal surgery, presented with symptomatic spinal subdural extra-arachnoid hygroma (SSEH) because of a fall on the third postoperative day. The hygroma was diagnosed by magnetic resonance imaging (MRI). Lumbar puncture was performed under local anesthesia, after which the leg pain disappeared immediately. MRI obtained immediately after puncture and 1 week later confirmed disappearance of the hygroma. CONCLUSION: Although dural transection is mentioned in most of the reports on treatment of symptomatic postoperative SSEH, we were able to treat this entity by epidural puncture. In the absence of paraplegia or cystorectal disturbance, puncture can be an effective and minimally invasive treatment option.


Assuntos
Linfangioma Cístico , Derrame Subdural , Feminino , Humanos , Idoso , Punção Espinal/efeitos adversos , Linfangioma Cístico/complicações , Espaço Subdural , Derrame Subdural/diagnóstico por imagem , Derrame Subdural/etiologia , Medula Espinal
5.
World Neurosurg ; 180: e579-e590, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37793610

RESUMO

OBJECTIVE: To evaluate the incidence, associated factors, clinical course, and management options of subdural hygroma in patients treated for aneurysmal subarachnoid hemorrhage (aSAH). METHODS: From January 2013 until June 2022, 336 consecutive patients with aSAH underwent treatment in our center. No one patient was excluded from the study cohort. Computed tomography (CT) examinations were performed at admission, immediately after surgery and on the first postoperative day, and subsequently in case of any neurologic deterioration or, at least, once per week until discharge from the hospital. Thereafter, CT examinations were at the discretion of specialists in the rehabilitation facility, referring physicians, or neurosurgeons at the outpatient clinic. RESULTS: The length of radiologic follow-up starting from CT at admission ranged from 1 to 3286 days (mean, 673 ± 895 days; median, 150 days). Subdural hygromas developed in 84 patients (25%). An average interval until this imaging finding from the initial CT examination was 25 ± 55 days (median, 8 days; range, 0-362 days). Evaluation in the multivariate model showed that patient age ≥72 years (P < 0.0001), cerebrospinal fluid (CSF) shunting (P < 0.0001), and microsurgical clipping of ruptured intracranial aneurysm (RIA; P < 0.0001) are independently associated with the development of subdural hygroma. In 54 of 84 cases (64%), subdural hygromas required observation only. Increase of the lesion size with (5 cases) or without (10 cases) appearance of midline shift was associated with patient age <72 years (P = 0.0398), decompressive craniotomy (P = 0.0192), and CSF shunting (P = 0.0009), whereas evaluation of these factors in the multivariate model confirmed independent association of only CSF shunting (P = 0.0003). Active management of subdural hygromas included adjustment of the shunt programmable valve opening pressure, cranioplasty, external subdural drainage, or their combination. Overall, during follow-up (mean, 531 ± 824 days; median, 119 days; range, 2-3285 days) after the start of observation or applied treatment, subdural hygromas showed either decrease (50 cases) or stabilization (34 cases) of their sizes, and no one lesion showed progression again. CONCLUSIONS: The clinical course of subdural hygromas in patients treated for aSAH is generally favorable, but occasionally these lesions show progressive enlargement with or without the appearance of midline shift, which requires active management.


Assuntos
Aneurisma Roto , Aneurisma Intracraniano , Linfangioma Cístico , Hemorragia Subaracnóidea , Derrame Subdural , Humanos , Idoso , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/epidemiologia , Aneurisma Intracraniano/cirurgia , Derrame Subdural/diagnóstico por imagem , Derrame Subdural/epidemiologia , Derrame Subdural/etiologia , Incidência , Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Subaracnóidea/epidemiologia , Hemorragia Subaracnóidea/etiologia , Aneurisma Roto/diagnóstico por imagem , Aneurisma Roto/epidemiologia , Aneurisma Roto/cirurgia , Progressão da Doença
6.
Artigo em Inglês, Russo | MEDLINE | ID: mdl-37830474

RESUMO

Surgical removal of cranio-orbital meningiomas is an effective method of treating this pathology. Modern surgical techniques and technologies make it possible to perform operations with a low risk of complications. Lumbar drainage or repeated lumbar punctures are often used intraoperatively or in the early postoperative period to prevent nasal CSF leak; this rarely leads to the development of significant neurological symptoms. We present a case of the development of severe intracranial hypotension with the formation of a subdural hygroma in the early postoperative period after removal of a cranio-orbital meningioma in a 41-year-old patient. The operation was performed using an individual model and molds for simultaneous reconstruction of the bone defect with an implant made of polymethyl methacrylate. On the 1st and 2nd days after surgery, lumbar punctures were performed. From the 2nd day there was a progressive deterioration with the development of symptoms characteristic of intracranial hypotension. Computed tomography revealed an increasing displacement of the midline structures of the brain and an increasing volume of epidural fluid accumulation in the area of surgical intervention. Magnetic resonance imaging revealed characteristic signs of intracranial hypotension. Conservative treatment (bed rest, active hydration) had no effect. On the 6th day after surgery, an epidural blood patch procedure was performed and closed external drainage of the epidural hygroma was performed, and a rapid regression of neurological symptoms was noted. Our experience and literature data indicate that it is necessary to remember the possibility of developing clinically significant intracranial hypotension even after a single lumbar puncture. The formation of hygromas in the surgical area is characteristic of intracranial hypotension, but in most cases does not require additional surgical intervention and does not have a negative impact on the outcome of treatment. Conservative treatment of intracranial hypotension is the first choice and often sufficient. If there is no effect and the patient's condition worsens, it is necessary to perform an epidural blood patch procedure.


Assuntos
Hipotensão Intracraniana , Linfangioma Cístico , Neoplasias Meníngeas , Meningioma , Humanos , Adulto , Hipotensão Intracraniana/diagnóstico por imagem , Hipotensão Intracraniana/etiologia , Hipotensão Intracraniana/terapia , Meningioma/diagnóstico por imagem , Meningioma/cirurgia , Linfangioma Cístico/complicações , Linfangioma Cístico/patologia , Encéfalo/patologia , Imageamento por Ressonância Magnética , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/cirurgia
7.
Korean J Gastroenterol ; 82(2): 91-95, 2023 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-37621244

RESUMO

Colorectal cystic lymphangiomas are rare benign lesions. They are characterized by the presence of either single or multi-cystic spaces lined by endothelium. Though there are multiple case reports of right and transverse colonic lymphangioma; only around 10 cases of lymphangioma of the rectum have been reported. We present a case report of rectal lymphangioma with the relevant literature review.


Assuntos
Neoplasias do Colo , Linfangioma Cístico , Linfangioma , Humanos , Reto/diagnóstico por imagem , Linfangioma Cístico/diagnóstico
8.
Rev Gastroenterol Peru ; 43(2): 139-144, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37597229

RESUMO

Retroperitoneal cystic lymphangiomas (RCL) are rare benign tumors of the lymphatic system. They account for less than 1% of all lymphangiomas. Surgical resection is the recommended treatment option; however, obtaining a pre-operative diagnosis is often difficult and, in most cases, the final diagnosis is only possible following histological assessment of the surgical specimen. This report describes a case of RCL in a 58-year-old female cirrhotic patient who presented to our center with dull aching abdominal pain and distension. To our knowledge, this is the first case of a RCL in a cirrhotic patient reported in the literature.


Assuntos
Linfangioma Cístico , Neoplasias Retroperitoneais , Feminino , Humanos , Pessoa de Meia-Idade , Linfangioma Cístico/complicações , Linfangioma Cístico/diagnóstico , Neoplasias Retroperitoneais/complicações , Neoplasias Retroperitoneais/diagnóstico , Neoplasias Retroperitoneais/patologia , Dor Abdominal/etiologia , Cirrose Hepática/complicações
9.
Artigo em Inglês | MEDLINE | ID: mdl-37567180

RESUMO

A hygroma is a fluid filled cavity, which appears due to repetitive traumata over bony prominences. For canine elbow hygroma there is no satisfactory treatment option available. Small hygromas should not be treated at all. Larger hygromas that restrict the dog in daily life, are infected, painful, or ulcerated should be treated surgically with drainage or total excision. Surgical treatment of hygromas results in long rehabilitation times and is associated with a high complication rate. Extracorporeal shockwave therapy (ESWT) is widely used in human and veterinary rehabilitation medicine since several years. Even the mechanisms of action are not fully understood it has a wide range of indications. ESWT provides anti-inflammatory effects, promotes microcirculation, and is used for pain relief. In this case series of 4 consecutive cases in 3 dogs we treated hygromas with extracorporeal shockwaves each for 3 to 6 times usually on a weekly basis. All hygromas regressed completely and no complications were noted. Overall ESWT seems to provide a safe, easy-to-use, as well as cost-effective alternative treatment option for canine elbow hygroma.


Assuntos
Doenças do Cão , Ondas de Choque de Alta Energia , Linfangioma Cístico , Animais , Cães , Doenças do Cão/cirurgia , Cotovelo , Linfangioma Cístico/cirurgia , Linfangioma Cístico/veterinária , Manejo da Dor/veterinária , Resultado do Tratamento
10.
Am J Case Rep ; 24: e939421, 2023 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-37421132

RESUMO

BACKGROUND Lymphangiomas are rare and benign malformations of the lymphatic system. The presentation of intra-abdominal lymphangiomas, especially from within the hepatoduodenal ligament, is rare in the adult population. In this report, we examine a lymphangioma within the hepatoduodenal ligament resulting in biliary obstruction. CASE REPORT A 62-year-old man with surgical history of cholecystectomy presented to the hepatobiliary clinic for a peri-hilar cystic lesion identified on surveillance magnetic resonance imaging (MRI). The patient's MRI revealed a 5.5-cm cystic lesion at the peri-hilar region, likely arising from the biliary tree, which had been increasing in size and causing biliary dilatation. The patient underwent an endoscopic ultrasound, showing a 4.3×2.2 cm cystic structure likley arising from the cystic duct stump with internal septation. An endoscopic retrograde cholangiopancreatography (ERCP) was performed and demonstrated no communication between the biliary tree and the cystic lesion. Given the uncertain etiology of the lesion and its obstructive nature, the patient was moved to the operating room for a complete excision. A well-encapsulated cystic lesion was identified between the cystic duct and the common hepatic duct, which did not communicate with the biliary tree. Pathology confirmed the diagnosis of lymphangioma with features of vascular channel proliferation in the background of fibrotic stroma and lymphoid aggregates. The vascular channel proliferation demonstrated positive immunohistochemical staining for D2-40. At 3-year follow-up, there was no evidence of post-resection recurrence. CONCLUSIONS This case represents an acquired lymphangioma occurring as a sequela of cholecystectomy, likely caused by interruption of the lymphatic drainage system secondary to surgical manipulation.


Assuntos
Colestase , Linfangioma Cístico , Linfangioma , Adulto , Masculino , Humanos , Pessoa de Meia-Idade , Linfangioma Cístico/diagnóstico , Linfangioma Cístico/patologia , Linfangioma Cístico/cirurgia , Linfangioma/complicações , Linfangioma/diagnóstico , Colangiopancreatografia Retrógrada Endoscópica , Ducto Cístico
17.
J Med Case Rep ; 17(1): 93, 2023 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-36918898

RESUMO

BACKGROUND: Lymphangiomas are lesions attributed to congenital malformations of the lymphatic system, or acquired chronic obstruction of the lymphatic network due to trauma, radiation, surgical manipulation, inflammation, or infection. Overall, lymaphangiomas are rare, and particularly, retroperitoneal lymphangiomas are far more uncommon per reported cases. CASE PRESENTATION: A 49-year-old Iranian woman presented with a progressive abdominal pain since approximately 1 month before admission. She was found to have a retroperitoneal lymphangioma after a precise radiological and surgical workup. CONCLUSION: Retroperitoneal lymphangiomas are rare lesions, sometimes indistinguishable from malignant lesions originating from pancreas and adjacent organs. Complete surgical removal and histologic evaluation of the lesion is the gold standard of treatment and diagnosis.


Assuntos
Linfangioma Cístico , Linfangioma , Pessoa de Meia-Idade , Feminino , Humanos , Linfangioma Cístico/diagnóstico , Linfangioma Cístico/diagnóstico por imagem , Irã (Geográfico) , Linfangioma/diagnóstico , Linfangioma/diagnóstico por imagem , Pâncreas/patologia , Dor Abdominal/etiologia
20.
Mol Genet Genomic Med ; 11(5): e2145, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36734119

RESUMO

BACKGROUND: Filamin A, encoded by the X-linked gene FLNA, links the cell membrane with the cytoskeleton and acts as a regulator of the actin cytoskeleton. Mutations in FLNA cause a large spectrum of congenital malformations during embryonic development, including Melnick-Needles syndrome (MNS). However, reports of MNS, especially in males, are rare, and the pathogenesis molecular mechanisms are not well understood. METHODS: We found a family with two consecutive miscarriages of similar fetuses with multiple malformations. DNA was extracted from peripheral blood and tissues, and whole exome sequencing was performed for genetic analysis. Then, we created a C57BL/6 mouse with a point mutation by CRISPR/Cas-mediated genome engineering. The migration of primary abdominal muscle cell was detected by wound healing assay. RESULTS: The first fetus showed congenital hygroma colli and omphalocele identified by ultrasound at 12 wks; the second fetus showed hygroma colli and thoraco abdominoschisis at 12 wks, with a new hemizygous mutation c.4420G>A in exon 26 of the FLNA gene, which is predicted to cause an amino acid substitution (p.Asp1474Asn). The mother and grandmother were both present in the c.4420G>A heterozygous state, and the mother's healthy brother had wild-type FLNA. These FLNA-mutated mice exhibited a broader central gap between the rectus abdominis than the wild type (WT), similar to the midline structure dysplasia of the abdominal wall in the two fetuses. Wound healing assays showed the attenuated migration capacity of abdominal muscle cells in mice with mutated FLNA. Finally, we summarized the cases of MNS with FLNA mutation from the accessible published literature thus far. CONCLUSION: Our research revealed a mutation site of the FLNA for MNS and explored the mechanism of midline structure dysplasia in the abdominal wall of male patients, which could provide more evidence for the clinical diagnosis and genetic counseling of families with these disorders.


Assuntos
Aborto Habitual , Linfangioma Cístico , Osteocondrodisplasias , Feminino , Gravidez , Masculino , Animais , Camundongos , Humanos , Osteocondrodisplasias/genética , Camundongos Endogâmicos C57BL , Mutação , Músculos Abdominais , Filaminas/genética
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