Papillary cystic acinic cell carcinoma: report of a rare lesion with unusual presentation

Introduction: Acinic cell carcinoma is an uncommon low grade tumour of the salivary glands that constitutes 2.5 to 4% of parotid gland tumours. Acinic cell carcinoma -Papillary cystic variant (ACC-PCV) is histologically composed of tumor with papillary and cystic growth patterns, with varying proportions of one or more cell types. It has been conferred significance because it has a poorer prognosis and is reported to be universally fatal in ten years. Case Report: We present a case of ACC-PCV in a sixteen year old male with unusual unicystic gross appearance, benign cytological picture and characteristic histopathological features .Cystic areas with papillary projection of surrounding cells showing characteristic tombstone or hobnail arrangements were seen. Discussion: The histogenesis and myriad architectural and cellular variations of ACC-PCV have been discussed along with its variegated cytomorphology which may lead to pitfalls in cytodiagnosis. The tumor may pose difficulty in histodiagnosis due to its resemblance to papillary carcinoma of the thyroi

Atypical presentation of cystic schwannoma of the sphenoid sinus: a nonsolitary mass with osseous, intracranial and cavernous sinus invasion

Although nearly half of all schwannomas involve the head and neck region, nasal and paranasal sinus presentations are quite rarely seen. Cystic schwannoma, characterized by cyst formation lined by S-100 protein positive membrane-like structures is very uncommonly seen in sphenoid sinus with only a single previously reported case. Here we report a young patient of cystic schwannoma of the paranasal sinuses having epicenter in the sphenoid sinus. The tumor had caused extensive erosion of the skull base and paranasal sinuses and extended intracranially that radiologically mimicked as infected mucocele causing loss of vision. This case denotes the aggressive behavior of such uncommon tumors

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

A 5-year-old Indian boy presented with subacute onset regression of milestones associated with seizures and spasticity. The symptoms started after an attack of measles. The magnetic resonance imaging (MRI) of the brain showed cavitating leukodystrophy with posterior predominance. Molecular analysis of the APOPT1 gene, a recently described gene associated with mitochondrial leukodystrophy, showed the patient to be homozygous for a 12.82-kilobase deletion, including coding exon 3. Deletion of exon 3 produces a frameshift, predicting the translation of a truncated protein (p.Glu121Valfs*4). The patient was started on mitochondrial cocktail regimen of thiamine, riboflavin, coenzyme Q and carnitine. Although he initially showed some improvement, he died 6 months after the onset of his illness.Genetic testing for the patient was done as part of the APOPT1 research project funded by MRC (MRC-QQR grant 2015-2020 and ERC advanced grant ERC FP7-322424

Parasellar Chondrosarcoma in Three Young Patients: A Diagnosis of Caution

Parasellar chondrosarcoma is rare slowly growing intracranial tumors. A correct diagnosis of these tumors is challenging for clinician due to overlapping location and simulation of clinical presentations with much common pituitary adenomas. We are reporting three young patients diagnosed to have parasellar chondrosarcoma highlighting the pathological features of importance required for confirm diagnosis

Reversible cerebral and brain stem dysfunction in n: Hexane neuropathy

A 18-year-old male, screen printer by profession developed sensory motor polyneuropathy, change in his behavior, bilateral 6 th and 7 th cranial nerve palsies, down beat nystagmus and cerebellar dysarthria. He had bilaterally prolonged P100 latency; left: 137 ms; right: 144 ms. P 37 was not recordable on either side while N 20 was normal. The inter latency difference between Ipsilateral R2 and Contralateral R2 was 6.15 ms, on the left side and normal on the right side. In the follow-up, there was normalization of the blink reflex study, improvement in P100 latency [left: 114 ms; right: 120 ms.] but worsening of peripheral nerve conductions. The sequential clinical recovery was of the behavioral dysfunction, down beat nystagmus, 6 th nerve, 7 th nerve involvement and ataxia, in that order. Sural nerve biopsy showed loss of large diameter myelinated fibers

A Rare Presentation of Orbital Castleman’s Disease

Castleman’s disease (CD) is an uncommon group of atypical lymphoproliferative disorders. Extranodal involvement such as the orbit is extremely rare. We aim to report a case of a 62-year-old male who presented with left painless proptosis for the past three years. Examination revealed a firm, lobulated mass in the left superotemporal orbit, displacing the globe inferomedially. A well-defined extraconal orbital lesion encasing the left lateral rectus muscle with intraconal extension was seen on Magnetic Resonance Imaging (MRI) that led to the provisional diagnosis of left solitary encapsulated venous malformation. Excision of the mass via lateral orbitotomy was performed. However, on histopathology, the features were consistent with a mixed-cell variant of Castleman’s disease. A detailed systemic workup was unremarkable. Proptosis resolved after surgery and no recurrence was noted in the three-year follow-up. To the best of our knowledge, this is the first case report of a mixed-cell variant of unicentric orbital CD without any systemic features. This case highlights the importance of including CD in the differential diagnosis of well-defined orbital lesions so as to enable its early detection and timely management

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy

A 5-year-old Indian boy presented with subacute onset regression of milestones associated with seizures and spasticity. The symptoms started after an attack of measles. The magnetic resonance imaging (MRI) of the brain showed cavitating leukodystrophy with posterior predominance. Molecular analysis of the APOPT1 gene, a recently described gene associated with mitochondrial leukodystrophy, showed the patient to be homozygous for a 12.82-kilobase deletion, including coding exon 3. Deletion of exon 3 produces a frameshift, predicting the translation of a truncated protein (p.Glu121Valfs*4). The patient was started on mitochondrial cocktail regimen of thiamine, riboflavin, coenzyme Q and carnitine. Although he initially showed some improvement, he died 6 months after the onset of his illness