Septo-optic dysplasia: an autopsy study of a 23-week fetus.

Septo-optic dysplasia is a rare congenital anomaly with an incidence of 1 in 10,000 live births. Recognizing this anomaly early can help parents take an informed decision. There are very few reports of pathological descriptions of this anomaly. We present neuropathological findings at autopsy following medical termination of pregnancy of a 23-week fetus with septo-optic dysplasia (SOD), optic nerve hypoplasia, absent septum pellucidum with aplastic posterior pituitary.

Multiple intracranial de-novo chloromas presenting with Garcin's syndrome.

Intracranial occurrence of a chloroma (myeloid sarcoma, MS) in the absence of a preceding hematological malignancy is unusual. We report the case of a 20-year-old man who presented with Garcin's syndrome of short duration. MRI revealed multiple extra-axial contrast enhancing lesions: two mirror lesions on the skull base, and one in the right parietal convexity. The parietal lesion was excised and histologically and immunohistochemically proved to be a differentiated variant of MS. Peripheral blood smear and bone marrow biopsy ruled out an underlying leukemia or myeloproliferative disorder. With a diagnosis of intracranial de-novo MS, he was referred for chemotherapy and radiation therapy. 15 months later, his clinical status remained the same while his imaging showed marginal decrease in size of the lesions. A repeat bone marrow biopsy remained normal. This is a first-of-its- kind report of multiple intracranial lesions of a de-novo MS presenting as Garcin's syndrome. Radiological differentials, immunohistochemical variants and management options related to MS are discussed in the light of the reported case.

Glycogen storage disease type V (Mc Ardle's disease): a report on three cases.

McArdle's disease (myophosphorylase deficiency), an uncommon autosomal recessive metabolic disorder, is characterized clinically by exercise intolerance beginning in childhood, myalgia, cramps, exercise-induced rhabdomyolysis, "second wind" phenomenon, elevated Creatine Kinase (CK) levels at rest, and previous episodes of raised CK levels following exercise. Several mutations in the PYGM gene and geographic variations have been described. We report three biopsy confirmed cases of McArdle's disease.

Metastatic Intracranial Adenoid Cystic Carcinoma with Unknown Primary: Case Report and Review of Literature.

Adenoid cystic carcinoma (ACC) is an epithelial malignancy comprising approximately 8-10% of all salivary gland tumors. Intracranial ACC without a known primary is an extremely rare pathobiological event. Only 13 cases have been reported in available literature. We report a case of a rare intracranial ACC in a 35-year-old gentleman presenting with features of raised intracranial pressure. Patient had a lesion in the right parieto-occipital lobe and underwent gross total decompression. There was no evidence of any primary after a thorough systemic evaluation. In the postoperative period, he showed a good clinical improvement and was recurrence free at follow-up of 18 months. We also discuss and review the existing relevant literature.