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Background: Primary dyslipidaemia in children is a rare inherited disorder of lipoprotein metabolism with debilitating sequelae and poor outcomes. Lipid-lowering drugs have less often been used in children and long-term outcome studies are scarce. The purpose of this study was to understand the clinical and laboratory profile, response to treatment on follow up and outcome of primary dyslipidaemia in Indian children. Methods: Clinical records, including historical details, examination features and laboratory and radiological evaluation of children diagnosed with primary dyslipidaemia, presenting over the last 9 years were studied. Cascade screening was done for family members of the patients to detect dyslipidaemia in parents and siblings. All children were followed up 3 to 6 monthly for clinical and laboratory evaluation. Diet and drug therapy, initiated as appropriate, were modified as necessary. Results: Of nine children with primary dyslipidaemia, seen over the last 9 years, homozygous familial hypercholesterolaemia (HoFH) (n = 4/9), familial hypertriglyceridaemia (FHT) (n = 3/9), familial combined hyperlipidemia (FCH) (n = 1/9), mutation proven chylomicronaemia syndrome (n = 1/9) were the phenotypes seen. Multiple xanthomas (n = 4/9), recurrent pancreatitis (n = 2/9) and incidentally found biochemical abnormality (n = 3/9) were the chief presenting features. Medical nutrition therapy and lipid-lowering drugs, as appropriate, were instituted in all. Follow-up over 16 months (range 4 to 90 months) revealed no deaths and no new onset of symptoms. Atherosclerotic plaques in the carotid artery were seen in one child, who presented late, despite fair compliance to treatment. Interestingly, lipid levels decreased in all cases and were normalised in two. Conclusion: Primary dyslipidaemia when detected early and treated aggressively can improve short-term outcomes. [ABSTRACT FROM AUTHOR]

This article from Neurology India discusses a case study of a 52-year-old male who presented with bilateral orbital lesions as the first manifestation of multiple myeloma. The patient experienced progressive right eye proptosis and blurred vision. Imaging tests revealed masses in both orbits with intracranial extension. The patient underwent surgery and was diagnosed with plasma cell neoplasm. Treatment with chemotherapy was initiated, and at the 3-month follow-up, there was no evidence of recurrence. The article provides detailed information about the patient's diagnosis, treatment, and outcome. [Extracted from the article]

Background: Accessory breast, also known as supernumerary breasts, polymastia, or mammae erraticae, is a clinical condition of having an additional breast. Accessory breasts are usually seen along the embryonic milk line, with the majority located in the axilla. Polythelia is the presence of an additional nipple. We report a rare case of dorsal accessory ectopic breast with three nipples (two well formed and one rudimentary) occurring along with lipomeningomyelocele and diastematomyelia. Case Description: We report the case of an 18-year-old female who presented with chief complaints of swelling over the upper back since birth and spastic weakness of bilateral lower limbs with inability to walk since 2 years. Three-dimensional computed tomography scan of the dorsal spine was suggestive of a wide bony defect in the posterior spinal elements from D3 to D9 vertebrae. Diastematomyelia was also seen. Magnetic resonance imaging of the dorsal spine was suggestive of a complex spinal dysraphism with lipomeningomyelocele and diastematomyelia. During surgery, the patient's accessory breast was removed, lipomatous tissue and bony septum were excised, and dural repair was done. Histopathological examination was consistent with accessory ectopic breast with lipomeningomyelocele. Conclusion: Dorsal accessory breast, although a rare entity, whenever present should alert the clinician regarding the possibility of an underlying occult spinal dysraphism (OSD). Therefore, dorsal accessory breast can also be considered as a marker of OSD. [ABSTRACT FROM AUTHOR]

Competing Interests: There are no conflicts of interest.

Background: Olfactory neuroblastoma (ONB) is a rare malignant neuroectodermal tumor of the nasal cavity. Mixed olfactory neuroblastoma which contains areas of divergent differentiation is even rare. Till date, only 4 cases of mixed olfactory neuroblastomas have been reported., Case Description: We report the case of a 46-year-old male who presented with the chief complaints of nasal bleeding and nasal obstruction since 4 months. Radiological imaging was suggestive of a large heterogeneous mass in the left superior nasal cavity with extensions into bilateral maxillary, ethmoidal, and sphenoidal sinuses, as well as into the anterior cranial fossa. Bifrontal osteoplastic craniotomy and excision of the intracranial part of the tumor from above and transnasal endoscopic removal of the mass in the nasal cavities and paranasal sinuses from below was done. Postoperative radiological imaging was suggestive of gross complete excision of the mass. Histopathological diagnosis was "mixed olfactory neuroblastoma-carcinoma (squamous and glandular differentiation) Hyams grade IV." On immunohistochemistry, the tumor cells were positive for neuron specific enolase (NSE), synaptophysin, chromogranin, and CD56 and peripherally for S100. Because of personal reasons, the patient did not take adjuvant radiotherapy. He presented again after 2 months with a full blown recurrence of esthesioneuroblastoma with similar extensions as before. The patient is now planned for salvage surgery followed by adjuvant chemoradiation., Conclusion: We report the 5 th case in the world of mixed olfactory neuroblastoma-carcinoma with squamous and glandular differentiation. From an analysis of the findings in the 5 reported cases of mixed olfactory neuroblastomas, one might infer that a separate subcategory of ONB, i.e., mixed ONB, should be considered because mixed ONBs have an aggressive behavior, high rates of recurrence, and these tumors should be treated aggressively by multimodality treatment., Competing Interests: There are no conflicts of interest.