Unexplained Pancytopenia in a Patient with 5q35.2-q35.3 Microduplication Encompassing NSD1: A Case Report

The 5q35.2-q35.3 duplication phenotype is characterized by growth delay, microcephaly, mental retardation and delayed bone aging. However, there has been no reports on the occurrence of pancytopenia as a consequence of 5q35.2-q35.3 duplication. A 42-year-old male visited the emergency room due to multiple trauma. He had been diagnosed with mental retardation in the past. No previous history of severe bleeding symptom was also reported. Complete blood cell counts were leukocyte 3.51×109/L, neutrophil 0.19×109/L, hemoglobin 8.3 g/dL, hematocrit 25.0%, and platelet 4.0×109/L. There was no relevant history of any medication intake and there were no other haematological parameters leading to the persistent pancytopenia. A bone marrow biopsy revealed hypercellular marrow with increased trilineage hematopoiesis. The uptake of fluorodeoxyglucose was increased in multiple lymph nodes, bone and spleen in positron emission tomography–computed tomography. A biopsy of the right axillary lymph node was performed and histologic findings were unremarkable. The chromosomal microarray revealed a 3.46 Mb microduplication at the 5q35.2-q35.3 site including NSD1. The patient had distinctive features related to atypical pancytopenia. Various managements for pancytopenia had no effect on the patient. However, there were no complications such as massive bleeding or serious infection compared to the severity of pancytopenia during a follow-up of 3 months. In addition, periodic patterns of deterioration and improvement in pancytopenia appeared spontaneously. Since it is rare for these distinctive features of pancytopenia and chromosomal abnormality to coexist, it is important to investigate the association. In the current study, we describe the first case of 5q35.2-q35.3 microduplication encompassing NSD1 with unexplained pancytopenia. Keywords: Pancytopenia, Chromosomal abnormality, Microarray

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Subsequent Development of Desmoid Tumor after a Resected Gastrointestinal Stromal Tumor

Case Reports in Pathology ◽

10.1155/2018/1082956 ◽

2018 ◽

Vol 2018 ◽

pp. 1-5

Author(s):

Areen Abdulelah Murshid ◽

Hatim Q. Al-Maghraby

Keyword(s):

Gastrointestinal Stromal Tumor ◽

Desmoid Tumor ◽

Case Reports ◽

Previous History ◽

Subsequent Development ◽

Stromal Tumor ◽

Desmoid Tumors ◽

Mesenchymal Tumors ◽

First Case ◽

History Of

Desmoid tumors (deep fibromatosis) of the mesentery are rare mesenchymal tumors. They are often misdiagnosed, especially with a previous history of resection for gastrointestinal stromal tumor (GIST). Immunohistochemistry can help differentiate between these two tumors. In this article, we present a case we had encountered: a Desmoid tumor developing in a patient with a history of GIST 3 years ago. It is the first case of GIST with subsequent development of Desmoid tumor to be reported in Saudi Arabia. We discuss the two entities of Desmoid tumor and GIST by comparing their definitions, clinical presentations, histological features, immunohistochemistry stains, molecular pathogenesis, prognosis, and treatment. We also discuss the relationship between GIST and the subsequent development of Desmoid tumors and compare our case with case reports in literature.

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Predictive factors for developing acute cholangitis and cholecystitis in patients undergoing delayed cholecystectomy: a retrospective study

10.21203/rs.2.15258/v1 ◽

2019 ◽

Author(s):

Takashi Miyata ◽

Daisuke Matsui ◽

Yuta Fujiwara ◽

Hiroto Saito ◽

Yoshinao Ohbatake ◽

...

Keyword(s):

Risk Factor ◽

Surgical Outcomes ◽

Intraoperative Complications ◽

Acute Cholangitis ◽

Previous History ◽

Cell Counts ◽

Number Of Patients ◽

History Of ◽

Group A ◽

Group B

Abstract Background We evaluated the risk of acute cholangitis and cholecystitis while waiting for cholecystectomy for gallstones. Methods We retrospectively enrolled 168 patients who underwent cholecystectomy for gallstones after a waiting period and conservative therapy between April 2014 and March 2018 at our hospital. We compared the clinical data from 20 patients who developed acute cholangitis and cholecystitis while waiting for cholecystectomy (group A) with data from 148 patients who did not develop cholangitis and cholecystitis (group B). The risk factors for developing acute cholangitis and cholecystitis and all patients' surgical outcomes were investigated. Results Preoperatively, significant differences in age (68.6 years vs 60.7 years; p= 0.004) and the number of patients with a previous history of acute grade II or III cholecystitis (55.0% vs 10.8%; p< 0.001) and biliary drainage (20.0% vs 2.0%; p= 0.004) were observed between group A and group B, respectively. Preoperative white blood cell counts (13500/µL vs 8155/µL; p< 0.001) and serum C-reactive protein levels (12.6 mg/dL vs 5.1 mg/dL; p< 0.001) were significantly increased, and serum albumin levels (3.2 g/dL vs 4.0 g/dL; p< 0.001) were significantly decreased in group A vs group B, respectively. Gallbladder wall thickening (≥ 5 mm) (45.0% vs 18.9%; p= 0.018), incarcerated gallbladder neck stones (55.0% vs 22.3%; p= 0.005), and abscess around the gallbladder (20.0% vs 1.4%; p= 0.002) were seen significantly more frequently during imaging in group A vs group B, respectively. Furthermore, investigating patients' surgical outcomes revealed a higher conversion rate to open surgery (20.0% vs 2.0%; p= 0.004), longer operation time (137 min vs 102 min; p< 0.001), and a higher incidence of intraoperative complications (10.0% vs 0%; p= 0.014) in group A vs group B, respectively. Conclusions Our results suggest that a history of severe cholecystitis is a risk factor for developing acute cholangitis and cholecystitis in patients waiting for surgery, and a risk factor for increased surgical difficulty.

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Acute presentation of an intraoral dermoid cyst causing airway compromise in a young child

BMJ Case Reports ◽

10.1136/bcr-2018-228421 ◽

2019 ◽

Vol 12 (4) ◽

pp. e228421 ◽

Cited By ~ 5

Author(s):

Sanjana Bhalla ◽

Vikas Acharya ◽

Munira Ally ◽

Ali Taghi

Keyword(s):

Oral Cavity ◽

Dermoid Cyst ◽

Previous History ◽

Airway Compromise ◽

Floor Of Mouth ◽

First Case ◽

Swallowing Difficulties ◽

History Of ◽

Rare Diagnosis ◽

Histology Report

A 4-month-old boy presented with a cystic swelling at the floor of the mouth causing acute airway compromise. The only previous history of note, was a tongue tie release at 3 days old. CT scan suggested a dermoid cyst with extensive floor of mouth abscess. He had an excision of the cyst and drainage of the superimposed abscess and made a good recovery. The histology report revealed a dermoid cyst which is a rare diagnosis in a child, particularly within the oral cavity. Early treatment is required to remove these lesions especially when they cause airway compromise or swallowing difficulties. This is the first case to our knowledge which suggests tongue tie release procedures causes a predisposition to the development of dermoid cysts in the oral cavity.

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Multifocal Intradural Extramedullary Pilocytic Astrocytomas of the Spinal Cord: A Case Report and Review of the Literature

Neurosurgery ◽

10.1093/neuros/nyw029 ◽

2016 ◽

Vol 80 (2) ◽

pp. E178-E184 ◽

Cited By ~ 4

Author(s):

Azam Basheer ◽

Richard Rammo ◽

Steven Kalkanis ◽

Michelle M. Felicella ◽

Mokbel Chedid

Keyword(s):

Spinal Cord ◽

Pediatric Population ◽

Previous History ◽

Ataxic Gait ◽

First Case ◽

Pilocytic Astrocytomas ◽

History Of ◽

The Central Nervous System ◽

Intradural Extramedullary ◽

Brain Involvement

Abstract BACKGROUND AND IMPORTANCE: Pilocytic astrocytoma (PA) is among the most common of the central nervous system gliomas in the pediatric population; however, it is uncommon in adults. PAs of the spinal cord in adults are even rarer, with only a few cases found in the literature. We report here the first case in the literature of multifocal intradural extramedullary spinal cord PAs in an adult. CLINICAL PRESENTATION: Our patient is a 56-yr-old female who presented with loss of balance and an ataxic gait. Multiple extramedullary spinal cord tumors were identified intraoperatively, the lesions completely resected, and all diagnosed as PAs. CONCLUSION: This case illustrates a unique instance of multifocal intradural extramedullary spinal cord PAs in an adult with no previous history of PA during childhood, no known familial syndromes, and no brain involvement.

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Complete reversal of bilateral optic nerve infiltration from lymphoblastic leukemia using chemotherapy without adjuvant radiotherapy

BMC Ophthalmology ◽

10.1186/s12886-021-02097-w ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Douglas Rodrigues da Costa ◽

Rodrigo Dahia Fernandes ◽

Fernanda Nicolela Susanna ◽

Epitácio Dias da Silva Neto ◽

Mario Luiz Ribeiro Monteiro

Keyword(s):

Optic Nerve ◽

Optic Disc ◽

Adjuvant Radiotherapy ◽

Case Reports ◽

Lymphoblastic Leukemia ◽

Previous History ◽

Leukemic Cells ◽

Allogenic Bone ◽

First Case ◽

History Of

Abstract Background Leukemic involvement of the eyes is rare, therefore, treatment relies on previous case reports. The treatment of ocular complications poses additional difficulties, because the eye is considered as a pharmacological “sanctuary” for patients with acute lymphoblastic leukemia (ALL). Therefore, radiotherapy is the main therapeutic choice; however, it might lead to many important side effects. To the best of our knowledge, this is the first case report of a bilateral leukemic optic nerve infiltration that remitted with chemotherapy without adjuvant radiotherapy. Case presentation A 30-year-old female patient with previous history of remitted ALL presented with a one-week history of floaters in her right eye. Her ophthalmological exam showed remarkable optic disc swelling, in both eyes. She was diagnosed with ALL relapse presenting as a bilateral optic nerve leukemic infiltration. Local radiotherapy was planned for both eyes, however, due to efficient recovery with chemotherapy, it was cancelled. Allogenic bone marrow transplantation was subsequently performed. The patient is being followed up and ALL remitted. Conclusion Leukemia relapse on central nervous system, despite rare, is a sign of poor prognosis and requires prompt treatment. Its occurrence on ocular tissues is even rarer. It is hypothesized that the blood-brain barrier limits the delivery of chemotherapeutic drugs to the eye and infiltration of the optic nerve by leukemic cells might prejudice the flow of cerebrospinal fluid between the cranial space and the optic disc.

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Omohyoid muscle syndrome

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20200497 ◽

2020 ◽

Vol 8 (3) ◽

pp. 1127

Author(s):

Fika Amanda Maengkom ◽

Putu Anda Tusta Adiputra

Keyword(s):

Cosmetic Surgery ◽

Previous History ◽

Rare Condition ◽

Surgical Oncology ◽

Neck Mass ◽

Medical Illness ◽

Lateral Neck ◽

First Case ◽

History Of ◽

Omohyoid Muscle

Omohyoid muscle syndrome is a rare cause of a bulging lateral neck mass that occurs on swallowing that often a worrisome observation because of the concern of malignancy and cosmetic deformity. The first case has been documented on 1969. A 12 years old male came to Surgical Oncology Outpatient Clinic with chief complaint a protruding right lateral neck mass during swallowing. He noticed this complaint since three months prior. He had no previous history of medical illness. He had history of multiple chokehold trauma when playing with his friend 6 months ago. He had no symptoms besides the mass occurring on his right neck. The patient went through the cervical radiograph and neck ultrasonography examination. There were inconclusive results. The patient was informed that the implication of these findings was strictly cosmetic and did not pose any risk of long-term consequence. Corrective cosmetic surgery was recommended as an option if he was concerned about the cosmetic appearance and conservative management was recommended to observe any pain or dysphagia he might experience in the near future. He denied surgery and did not seek further care for his condition. Omohyoid muscle syndrome is a rare condition that might occur after trauma such as chokehold to the neck. Imaging on this syndrome quite challenging especially when there were no other symptoms experienced. If it is proven to be strictly cosmetic, most patients will choose to have a conservative therapy.

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CO-TRIMOXAZOLE PREVENTIVE THERAPY REDUCES ACTIVE PULMONARY TUBERCULOSIS RISK IN PEOPLE LIVING WITH HIV/AIDS ON ANTIRETROVIRAL AT WANGAYA HOSPITAL IN DENPASAR, BALI, INDONESIA: A PROSPECTIVE COHORT STUDY

Asian Journal of Pharmaceutical and Clinical Research ◽

10.22159/ajpcr.2020.v13i4.36844 ◽

2020 ◽

pp. 96-100

Author(s):

Ketut Suryana ◽

Hamong Suharsono ◽

Dwijo Anargha Sindhughosa

Keyword(s):

Prospective Cohort ◽

Previous History ◽

Preventive Therapy ◽

People Living With Hiv ◽

Chi Square ◽

Active Pulmonary Tuberculosis ◽

Cell Counts ◽

Cd4 Cell Counts ◽

History Of ◽

Cd4 Cell

Objective: To evaluate whether co-trimoxazole preventive therapy (CPT) and other contributing factors, among people living with HIV/AIDS (PLWHA) on antiretroviral (ARV) are effective to reduce active pulmonary tuberculosis (APT) at Wangaya Hospital, Denpasar, Bali, Indonesia. Methodology: A prospective cohort study was conducted to evaluate the use of CPT in reducing APT. In this study, 403 PLWHA on ARV 151 participants accepted CPT as the first group and 252 PLWHA refused CPT as the second group. Eight participants among the first group and 48 participants among the second group were confirmed APT. Revisits were scheduled every a month to replenish pills and to confirm APT. The CPT effectiveness, sociodemography and laboratory, and reducing APT risk after prospective cohort entry were analyzed using Chi-square with significant p<0.05. Statistical software package SPSS 15.0 was used for statistical analysis. Results: Two hundred fifty-one (62.2%) of the participants were males and 152 (37.8%) females. Eight (2.0%) of the first group were confirmed APT and 48 (12.0%) of the second group were confirmed APT (p=0.004). In bivariate analysis (Chi-square), we found that sex (p=0.019), smoking (p=0.000), alcohol consumption (p=0.000), previous history of tuberculosis (TB) (p=0.000), and CD4 cell counts (<69 cell/μL) (p=0.002) were significant APT risk factors. There was significantly less APT risk among the participants who accepted CPT compared with participants refused CPT (p=0.002). Conclusions: This study found that CPT was significantly associated with reduce of APT risk in PLWHA. Furthermore, there were significantly added the preventive effect of CPT; sex, smoking, alcohol consumption, previous history of TB, and CD4 cell counts.

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Pancreatic Head Mass from Metastatic Meningeal Hemangiopericytoma

Sarcoma ◽

10.1155/2000/532304 ◽

2000 ◽

Vol 4 (4) ◽

pp. 169-172 ◽

Cited By ~ 2

Author(s):

Bin S. Teh ◽

Hsin H. Lu ◽

Darshana N. Jhala ◽

Imran Shahab ◽

G. Rush Lynch

Keyword(s):

Case Report ◽

Local Recurrence ◽

Literature Review ◽

Patient Management ◽

Positive Impact ◽

Pancreatic Head ◽

Distinctive Features ◽

First Case ◽

History Of ◽

Meningeal Hemangiopericytoma

Purpose.To illustrate the propensity of meningeal hemangiopericytoma to spread extraneurally, as a distinction to the ordinary meningioma.Patients or subjects.A patient with long history of meningeal hemangiopericytoma was reported.Methods.A case report on meningeal hemangiopericytoma with a literature review was presented.Results.The patient has multiple local recurrence as well as distant metastases.This is the first case report of metastatic meningeal hemangiopericytoma causing compression of the pancreatic head.The patient also has biopsy-proven pulmonary metastases.The patient received both local and systemic therapy.Discussion.It is important to recognize the distinctive features differentiating meningeal hemangiopericytoma from meningioma. The positive impact of clinico-pathological correlation on patient management is emphasized.

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Acute monocular oligemia in a patient with migraine with aura demonstrated using OCT-angiography: A case report

European Journal of Ophthalmology ◽

10.1177/1120672120984408 ◽

2020 ◽

pp. 112067212098440

Author(s):

Julio González-Martín-Moro ◽

Jesús Porta Etessam ◽

Belén Pilo de la Fuente ◽

Irene Fuentes Vega ◽

Inés Contreras

Keyword(s):

Optical Coherence Tomography ◽

Optical Coherence Tomography Angiography ◽

Previous History ◽

Optical Coherence ◽

Vascular Changes ◽

Visual Aura ◽

Visual Symptoms ◽

First Case ◽

Patient Reported ◽

History Of

Introduction: Migraine is one of the most common causes of transient visual loss. Optical coherence tomography angiography (OCTA) provides fast and non-invasive imaging of the retinal vessels. We report the first case of monocular retinal oligemia demonstrated using OCTA during a migraine attack with aura. Case description: A 27-year-old man with a previous history of migraine with visual aura was seen in the emergency room due to acute left hemicranial pain with positive visual symptoms in his right eye. The patient reported a blue stain in his right eye. Optical coherence tomography angiography (OCT-A) showed an extensive area of hypoperfusion in the macular region of his right eye. Forty-eight hours later visual symptoms had improved and the OCT-A showed a significant reduction in the area of hypoperfusion. Seven days later the patient was asymptomatic and retinal perfusion had returned to normal values. Conclusion: Monocular involvement suggests that these retinal vascular changes are independent from cerebral vascular changes, supporting the hypothesis of selective retinal ganglion cell layer spreading depression as the possible cause of some cases of retinal migraine.

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