Osteolipoma of leg masquerading as osteoid osteoma: A case report

Lipomas are the most common, subcutaneous, and slow-growing tumors composed of fat (adipose tissue). Out of many types of these benign tumors, ossifying lipoma (osteolipoma) is the rarest subtype. Here, randomly distributed trabeculae of lamellar bone are seen within mature adipose tissue. They are featured only as isolated case reports and small case series, thus the true incidence is not known. The most common site for osteolipoma is the head and neck region and they are rarely reported in the lower extremities. Herein, we discuss the case of a 19-year-old man who presented with a progressively enlarging painful mass in the left leg. Radiology was typical of osteoid osteoma. Excision was performed and histopathological examination confirmed the lesion as osteolipoma with no evidence of malignancy. No recurrence of the tumor was observed after 2 years of follow-up. Although osteolipoma is a rare entity, the differential diagnosis of the lesion can be kept in mind whenever we encounter ossification within the adipose tissue.

Epidemiology and Spectrum of lymphoma in a single tertiary care hospital of North India

Background: Non-Hodgkin抯 Lymphoma is a common hematological malignancy. Its incidence and distribution in India are slightly different from developed nations. The study was initiated to obtain the epidemiological, clinical and histopathological spectrum of lymphoma in a single tertiary care hospital of North India. Methods: 104 eligible consecutive cases of lymphoma were retrospectively analyzed from January 2016 to March 2020. Morphology and immunohistochemistry were performed and clinical details were captured from hospital information system. Cases were reclassified according to WHO classification of Tumors of Hematopoietic and Lymphoid Tissue 2017 and also clinically as nodal and extra nodal lymphomas and analyzed. Results: Among the included patients 14.4% patients are diagnosed as Hodgkin抯 lymphoma (HL) while 85.5% belonged to non-Hodgkin抯 lymphoma (NHL). Median age for NHL is 52.5 years. Male outnumbered females in both NHL and HL with ratio of 1.87 and 1.5. Majority of NHL are mature B-cell neoplasm (83.1%), while mature T-cell and NK cell neoplasm are less (14.6%). Most common subtype found is Diffuse large B-cell lymphoma (52.8%) followed by Primary diffuse large B cell lymphoma of CNS (15.7%). Primarily nodal Vs extranodal involvement is seen in 51.9% and 48% of cases. Most common extranodal site is CNS followed by GIT and spine. Conclusion: In the present study DLBL is the most common subtype seen in 52.8% of cases in concordance with other studies but the sticking difference here is low incidence of follicular lymphoma and CLL/SLL and a much higher incidence of Primary DLBCL of CNS. There is an Inherited selection bias because the cases are collected from single institution; however, causes and reasons should be more extensively investigated.

Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene

Biotinidase defciency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly depends on residual biotinidase enzyme activity, although there are some exceptions. Broadly BD disorders are classifed as profound BD and partial BD. Further profound BD can be early onset, late onset, and sometimes may be asymptomatic. Clinically late-onset profound BD can present with spectrum of manifestations ranging from single organ to multiple organ involvement, typically afecting function of brain, eye, ear, and skin. Here, a frst-born child to consanguineous parents with late-onset profound BD presenting with hyperventilation secondary to lactic acidosis, hypotonia, evolving spasticity, and abnormal neuroimaging fndings caused by novel homozygous variant, c.466-3T>G in the BTD gene is reported.

Sellar/Suprasellar Germinoma Masquerading As Pituitary Adenoma

We report a case of sellar/suprasellar germinoma in a 17-year-old female which was misdiagnosed as pituitary adenoma both clinically and on imaging. Patient presented with severe headache of short duration and diminished visual acuity in left eye. Endocrinological work up revealed hyperprolactinemia and markedly reduced blood cortisol. MRI revealed homogenously enhanced intrasellar mass with suprasellar extension showing characteristic dumbbell conguration (snowman sign). Provisional diagnosis of pituitary adenoma was made and transsphenoidal resection of tumor was performed which on histology and immunohistochemistry proved to be germinoma. Sellar/suprasellar germinoma without diabetes insipidus is considered to be very difcult to diagnose preoperatively and the differentiation from pituitary adenoma based on MRI ndings was not possible in this case. However it is suggested that in a child with visual impairment, endocrine dysfunction and sellar/suprasellar mass a possibility of germ cell tumor should always be considered in differential diagnosis and a frozen section has to be performed to avoid excessive dissection.

Anomalies Associated with Single Umbilical Artery at Perinatal Autopsy.

We evaluated 214 fetuses sent for autopsy with gestational ages ranging from 12 to 39 weeks. Of these, seventeen fetuses (7.9%) had single umbilical artery. Thirteen of these fetuses were aborted after antenatal detection of severe malformations and 4 died in utero. Genito-urinary system (n=6) and central nervous system (n=4) were the most common sites of involvement. Presence of single umbilical artery warrants a detailed evaluation of the fetus for other anomalies.

Central nervous system mycosis: Analysis of 10 cases.

Aim: To describe the clinicopathological features in patients with fungal infections of the central nervous system (CNS) presenting as mass lesions. Materials and Methods: A retrospective analysis of records obtained from 10 patients was done with histopathologically confirmed fungal infections presenting as ICSOL, diagnosed in the department of pathology. Clinical features at presentation, findings of radiological investigations performed and histopathology were noted for each patient and subjected for analysis. Results: Infection was higher in males, and paranasal sinusitis was the most common predisposing factor. Location was intraparenchymal followed by sphenoid wing. Four dural-based lesions mimicked meningioma clinically. The most common fungus identified was zygomycosis (seven cases), followed by phaeohyphomycosis (two cases) and aspergillosis (one case). Conclusion: There is a rising trend of CNS mycosis, both in immunocompromised and immunocompetent patients. Intracranial fungal granuloma may mimic radiologically as glioma or meningioma, therefore a high index of suspicion is needed to detect early CNS fungal infections, especially in immunocompetent young patients with no predisposing illness. Fungi should always be excluded in patients with inflammatory or granulomatous pathology of CNS.

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients.

Background & objectives: Developmental delay (DD)/mental retardation also described as intellectual disability (ID), is seen in 1-3 per cent of general population. Diagnosis continues to be a challenge at clinical level. With the advancement of new molecular cytogenetic techniques such as cytogenetic microarray (CMA), multiplex ligation-dependent probe amplification (MLPA) techniques, many microdeletion/microduplication syndromes with DD/ID are now delineated. MLPA technique can probe 40-50 genomic regions in a single reaction and is being used for evaluation of cases with DD/ID. In this study we evaluated the clinical utility of MLPA techniques with different probe sets to identify the aetiology of unexplained mental retardation in patients with ID/DD. Methods: A total of 203 randomly selected DD/ID cases with/without malformations were studied. MLPA probe sets for subtelomeric regions (P070/P036) and common microdeletions/microduplications (P245-A2) and X-chromosome (P106) were used. Positive cases with MLPA technique were confirmed using either fl uorescence in situ hybridization (FISH) or follow up confirmatory MLPA probe sets. Results: The overall detection rate was found to be 9.3 per cent (19 out of 203). The detection rates were 6.9 and 7.4 per cent for common microdeletion/microduplication and subtelomeric probe sets, respectively. No abnormality was detected with probe set for X-linked ID. The subtelomeric abnormalities detected included deletions of 1p36.33, 4p, 5p, 9p, 9q, 13q telomeric regions and duplication of 9pter. The deletions/duplications detected in non telomeric regions include regions for Prader Willi/Angelman regions, Williams syndrome, Smith Magenis syndrome and Velocardiofacial syndrome. Interpretation & conclusions: Our results show that the use of P245-A2 and P070/P036-E1 probes gives good diagnostic yield. Though MLPA cannot probe the whole genome like cytogenetic microarray, due to its ease and relative low cost it is an important technique for evaluation of cases with DD/ID.