Case report: A large extramedullary granulocytic sarcoma as the initial presenting feature of chronic myeloid leukemia

Granulocytic sarcomas (chloromas) are rare extramedullary tumors consisting of primitive granulocytic cells. They arise de novo, or are associated with other hematologic disorders such as acute myeloid leukemia, myelodysplastic syndrome, or myeloproliferative disorders. We report here on a case of a 62-year-old woman who presented with a large swelling in her right groin and leg. The mass was confirmed by biopsy to be a granulocytic sarcoma. Bone marrow examination showed mild hypercellularity but no evidence of increase in blast count. However, cytogenetic examination of the marrow showed t(9;22), indicating an unexpected diagnosis of chronic myeloid leukemia.     

Graves' disease presenting as pseudotumor cerebri: a case report

Introduction

Pseudotumor cerebri is an entity characterized by elevated intracranial pressure with normal cerebrospinal fluid and no structural abnormalities detected on brain MRI scans. Common secondary causes include endocrine pathologies. Hyperthyroidism is very rarely associated and only three case reports have been published so far.

Case presentation

We report the case of a 31-year-old Luso-African woman with clinical symptoms and laboratory confirmation of Graves' disease that presented as pseudotumor cerebri.

Conclusion

This is a rare form of presentation of Graves' disease and a rare cause of pseudotumor cerebri. It should be remembered that hyperthyroidism is a potential cause of pseudotumor cerebri.

     

Glioblastoma multiforme presenting as postpartum depression: a case report

Background

Alterations of mental status are characteristic of psychiatric disorders but may also result from a multitude of organic causes. Generally, physical examination and blood analysis are a part of basic psychiatric differential diagnostics, whereas more sophisticated procedures (for example, brain imaging) are applied only in cases with pathologic diagnostic findings. Our report challenges this approach by describing a case of glioblastoma multiforme presenting as postpartum depression without abnormalities in basic differential diagnostics.

Case presentation

A 28-year-old white woman who had been in outpatient treatment for postpartum depression was taken to the psychiatric emergency room. The psychopathological assessment, however, showed mild disorientation and severe deficits of long-term memory. Moreover, she complained of stabbing, bilateral headaches, but results of her physical examination and blood analysis were unremarkable. Magnetic resonance imaging of the brain was performed, which showed a contrast-enhanced mass lesion in the left frontal lobe. The patient underwent urgent tumor resection, and histologic results revealed an IDH-mutant glioblastoma multiforme. The patient was discharged with a substantially improved psychopathology and without neurological deficits.

Conclusions

This report adds to the evidence that postpartum depression may have organic causes in some cases, a fact that needs to be considered in the clinical setting. Atypical neurocognitive findings in a psychiatric interview may alone justify brain imaging, despite normal physical examination and blood analysis results.

     

A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report

We report a case of severe weight loss secondary to anorexia nervosa causing bilateral superficial peroneal nerve entrapment in a young female patient who was treated successfully by bilateral surgical decompression.     

Cytodiagnosis of hydatid disease presenting with Horner's syndrome: a case report

BACKGROUND: The diagnosis of echinococcosis is based on clinical, radiologic and serologic findings. Fine needle aspiration (FNA) is useful in evaluating the lesion when the presentation is atypical. We report a case of hydatid cyst at the lung apex in which the diagnosis was made on FNA, with no adverse reaction to the aspiration. CASE: A 30-year-old male, a chronic smoker, presented with pain radiating to the medial two fingers of the right hand for two years. He also had miosis and ptosis of the right eye and anhidrosis of the right side of theface. There was wasting of small muscles in the right hand. Magnetic resonance imaging revealed a hyperintense mass at the apex of the right lung, thoracic inlet and adjacent vertebral bodies. A clinical diagnosis of Horner's syndrome due to pancoast tumor was rendered. Ultrasound-guided FNA showed protoscolices, scattered hooklets and bits of acellular laminated membrane, characteristic of echinococcosis. Surgical excision of the cyst was done. Gross and histopathologic examination of the excised cyst confirmed the diagnosis. CONCLUSION: FNA, though traditionally contraindicated, is a highly desirable, rapid, noninvasive diagnostic mode for echinococcosis. In view of its pathognomonic cytomorphologic features and numerous reports on cytodiagnosis in the literature, it is time to evaluate the diagnostic benefits and weigh the risks against the advantages of the technique.     

Paraneoplastic limbic encephalitis presenting as a neurological emergency: a case report

Introduction

Dentin dysplasia is a rare hereditary disturbance of dentin formation characterized by defective dentin development with clinically normal appearing crowns, severe hypermobility of teeth and spontaneous dental abscesses or cysts. Radiographic analysis shows obliteration of all pulp chambers, short, blunted and malformed or absent roots and peri-apical radiolucencies of non carious teeth.

Case presentation

We present a case of dentin dysplasia type I in a 12-year-old Iranian boy, and the clinical, radiographic and histopathologic findings of this condition and treatment are described.

Conclusions

There are still many inconclusive issues in the diagnosis and management of patients with dentin dysplasia. The diagnostic features of this rare disturbance will remain incompletely defined until additional cases have been described. Early diagnosis of the condition and initiation of effective regular dental treatments may help these patients to prevent or delay loss of dentition.     

Pheochromocytoma presenting as recurrent urinary tract infections : a case report

Introduction

Idiopathic purpura fulminans is a cutaneous thrombotic disorder usually caused by autoimmune-mediated protein C or S deficiency. This disorder typically presents with purpura and petechiae that eventually slowly or rapidly coalesce into extensive, necrotic eschars on the extremities. We present the first known case of idiopathic purpura fulminans consistent with prior clinical presentations in the setting of a prothrombotic genetic mutation, but without hallmark biochemical evidence of protein C or protein S deficiency. Another novel feature of our patient's presentation is that discontinuation of anti-coagulation has invariably led to recurrence and formation of new lesions, which is unexpected in idiopathic purpura fulminans because clearance of autoimmune factors should be followed by restoration of anti-coagulant function. Although this disease is rare, infants with suspected idiopathic purpura fulminans should be rapidly diagnosed and immediately anti-coagulated to prevent adverse catastrophic outcomes such as amputation and significant developmental delay.

Case presentation

A six-month-old Caucasian boy was brought to our pediatric hospital service with a low-grade fever and subacute, symmetric, serpiginous, stellate, necrotic eschars on his forearms, legs and feet that eventually spread non-contiguously to his toes, thighs and buttocks. In contrast to his impressive clinical presentation, his serologic evaluation was normal, and he was not responsive to corticosteroids and antibiotics. Full-thickness skin biopsies revealed dermal vessel thrombosis, leading to a diagnosis of idiopathic purpura fulminans and successful treatment with low-molecular-weight heparin, which was transitioned to warfarin. Long-term management has included chronic anti-coagulation because of recurrence of lesions with discontinuation of treatment.

Conclusion

In infants with necrotic eschars, it is important to first consider infectious, inflammatory and hematologic etiologies. In the absence of etiology for protracted idiopathic purpura fulminans, management should include tissue biopsy, in which thrombotic findings warrant a trial of empiric anti-coagulation. Some infants, including our patient, may need long-term anti-coagulation, especially when the underlying etiology of coagulation remains unidentified and symptoms recur when treatment is halted. Given that our patient still requires anti-coagulation, he may have a yet to be identified autoimmune-mediated mechanism for his truly idiopathic case of protracted purpura fulminans.     

Gastric bronchogenic cyst presenting as a submucosal mass: a case report

ABSTRACT: INTRODUCTION: Bronchogenic cysts are developmental anomalies of the primitive foregut which mostly occur in the lung. Gastric bronchogenic cysts are extremely rare; few cases have been reported in the literature and the diagnosis was often made following surgical resection. CASE PRESENTATION: A 40-year-old North African man was admitted to our hospital with a gastric submucosal mass. An endoscopic ultrasound revealed a unilocular cystic mass located in the muscular layer. Its content was echogenic suggestive of mucus. Magnetic resonance imaging confirmed the liquid nature of the cyst and showed a high ratio of proteins. Based on these observations, the diagnosis of bronchogenic cyst was confirmed. An endoscopic monitoring was decided rather than surgery because of the small size of the cyst and the absence of symptoms. CONCLUSION: Although gastric bronchogenic cysts are rare, they should be well known and considered in all differential diagnoses of gastric tumors. We report a new case of gastric bronchogenic cyst and highlight the contribution of morphological tests that currently allow a non-invasive diagnosis.     

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights

Background

Mucopolysaccharidosis type I (MPS I) results in significant disease burden and early treatment is important for optimal outcomes. Recognition of short stature and growth failure as symptoms of MPS I among pediatric endocrinologists may lead to earlier diagnosis and treatment.

Case presentation

A male patient first began experiencing hip pain at 5 years of age and was referred to an endocrinologist for short stature at age 7. Clinical history included recurrent respiratory infections, sleep apnea, moderate joint contractures, mild facial dysmorphic features, scoliosis, and umbilical hernia. Height was more than ??2 SD below the median at all time points. Growth velocity was below the 3rd percentile. Treatment for short stature included leuprolide acetate and recombinant human growth hormone. The patient was diagnosed with MPS I and began enzyme replacement therapy with laronidase at age 18.

Conclusions

The case study patient had many symptoms of MPS I yet remained undiagnosed for 11 years after presenting with short stature. The appropriate path to MPS I diagnosis when patients present with short stature and/or growth failure plus one or more of the common signs of attenuated disease is described. Improved awareness regarding association of short stature and growth failure with attenuated MPS I is needed since early identification and treatment significantly decreases disease burden.

     

Cauda equina syndrome and nitric oxide synthase immunoreactivity in the spinal cord of the dog

The development of the cauda equina syndrome in the dog and the involvement of spinal nitric oxide synthase immunoreactivity (NOS-IR) and catalytic nitric oxide synthase (cNOS) activity were studied in a pain model caused by multiple cauda equina constrictions. Increased NOS-IR was found two days post-constriction in neurons of the deep dorsal horn and in large, mostly bipolar neurons located in the internal basal nucleus of Cajal seen along the medial border of the dorsal horn. Concomitantly, NOS-IR was detected in small neurons close to the medioventral border of the ventral horn. High NOS-IR appeared in a dense sacral vascular body close to the Lissauer tract in S1-S3 segments. Somatic and fiber-like NOS-IR appeared at five days post-constriction in the Lissauer tract and in the lateral and medial collateral pathways arising from the Lissauer tract. Both pathways were accompanied by a dense punctate NOS immunopositive staining. Simultaneously, the internal basal nucleus of Cajal and neuropil of this nucleus exhibited high NOS-IR. A significant decrease in the number of small NOS immunoreactive somata was noted in laminae I-II of L6-S2 segments at five days post-constriction while, at the same time, the number of NOS immunoreactive neurons located in laminae VIII and IX was significantly increased. Moreover, high immunopositivity in the sacral vascular body persisted along with a highly expressed NOS-IR staining of vessels supplying the dorsal sacral gray commissure and dorsal horn in S1-S3 segments. cNOS activity, based on a radioassay of compartmentalized gray and white matter regions of lower lumbar segments and non-compartmentalized gray and white matter of S1-S3 segments, proved to be highly variable for both post-constriction periods.     

Transient myeloproliferative disorder in Down syndrome presenting with ascites: a case report

BACKGROUND: An increased frequency of acute myelogenous leukemia is a well known feature in children with Down syndrome. In addition, transient myeloproliferative disorders (TMD), which may mimic acute leukemia, also occur in neonates with Down syndrome. TMD is recognized shortly after birth or in the neonatal period and is characterized by leukocytosis and thrombocytopenia, which resolve spontaneously in four to six weeks. CASE: A 1.5-month-old, male infant born with Down syndrome and patent ductus arteriosus presented with abdominal distention due to ascites. Cytology of the fluid revealed immature myeloid cells and megakaryocytes. Flow cytometry of the ascitic fluid confirmed the presence of immature myelomonocytic cells. A complete hematologic evaluation along with the clinical findings supported the diagnosis of TMD in Down syndrome. CONCLUSION: TMD is an uncommon syndrome strongly associated with Down syndrome. Since the abnormal laboratory findings are seen primarily in the peripheral blood, it is usually diagnosed by a hematopathologist without much difficulty. Our case demonstrates the importance of cytopathologist familiarity with this entity so as not to erroneously diagnose a leukemic process. This is extremely important since most cases of TMD spontaneously resolve within a few weeks to months and do not require treatment other than supportive measures.     

Deep juvenile xanthogranuloma presenting as a chest wall mass: a case report

BACKGROUND: Juvenile xanthogranulotna (JXG) is a non-Langerhans cell histocytic proliferation that may appear as an extracutaneous deep-seated lesion and give a broad clinical dijffrrential diagnosis. We report the fine needle aspiration cytologv (FNAC) findings of deep JXG. CASE: A 5-month-old African-American boy was incidentally found to have a chest wall mass on a chest radiograph obtained for an unrelated medical problem. Subsequent computed tomographic scans documented a 3.8-cm soft tissue mass that involved the right chest wall centered around the fifth rib. A broad clinical differential diagnosis prompted FNA to evaluate the lesion. Aspirate smears of the mass exhibited numerous finely vacuolated histocytes, eosinophils, multinucleated giant cells and scattered Touton giant cells. Many of the histiocytes had reniform or grooved nuclei, resembling Langerhans cells. The histiocytes were immunoreactive for CD68 but were nonreactive for CD1a and S-100 protein. Subsequent excisional biopsy confirmed the diagnosis of JXG. In addition, the tumor was strongly immunoreactive for factor XIIIa. CONCLUSION: JXG should be considered in the diferential diagnosis of any histocytic/fibrohistiocytic soft tissue lesion of childhood, and this entity can be accurately diagnosed by FNAC and immunohistochemical findings.