Splenic Dysfunction in Children With Sickle Cell Disease: A Single Centre Experience From Central India.

OBJECTIVE: To assess the incidence and predictors of splenic dysfunction in children with sickle cell disease (SCD). METHODS: A cross-sectional study was conducted between June 2019 and December 2020 where children aged 1 to 15 years of age with SCD were screened for splenic dysfunction. Children who were splenectomised, those with other diseases known to affect splenic function like congenital malformations, immunodeficiencies, and chronic diseases like tuberculosis, nephrotic syndrome, diabetes mellitus, chronic liver disease, celiac disease or malignancy were excluded. Splenic size was assessed by clinical examination and ultrasonography. Splenic dysfunction was assessed using splenic scintigraphy using Technetium-99m (99mTc) labeled autologous RBCs and by the presence of Howell Jolly bodies in the peripheral smear. Laboratory and clinical predictors of splenic dysfunction were assessed by multiple logistic regression. RESULTS: We evaluated 66 children with SCD with a mean (SD) age of 7.41 (3.3) years. Impaired and absent splenic function as assessed by 99mTc scintigraphy was found in 13 (19.7%), and 3 (4.6%) children, respectively. Howell Jolly bodies in peripheral smear were found in 5 (7.5%) children; 3 of them had abnormal uptake on scintigraphy; all five had splenomegaly. Age > 5 years, > 4 episodes of vaso-occlusive crisis (VOC), > 3 hospitalization events in the past, > 5 blood transfusions, children not receiving hydroxyurea, reticulocyte count > 4%, and HbS > 70% were independent predictors of splenic dysfunction. CONCLUSION: The prevalence of splenic dysfunction in children with SCD in Central India is lower than that reported from the West. The decision to start antibiotic prophylaxis can be individualized in these children.

Remote supratentorial intraparenchymal bleed after posterior fossa surgery: A rare occurrence.

Background: Intraparenchymal hemorrhage at the operative site is one of the major complications of brain surgery. It is unusual to occur at a site remote from the operative site, but when it happens, it may cause significant morbidity and mortality. Case Description: We report the case of a 27-year-old male who presented with complaints of paresthesias over the left side of his face and decreased hearing from the left ear for two years. His radiology was suggestive of a large left cerebellopontine angle epidermoid cyst. The patient underwent left retro mastoid suboccipital craniotomy and near-total excision of the epidermoid cyst. The immediate postoperative non-contrast computed tomography scan of the brain was suggestive of no hematoma at the operated site but a remote left parafalcine frontoparietal intraparenchymal bleed, which was managed conservatively. At two months follow-up, he had no neuro deficits, and magnetic resonance imaging of the brain was suggestive of near-total excision of the epidermoid cyst with resolving left parafalcine frontoparietal bleed. Conclusion: We report this case due to the unique case observation of an intracranial bleed at a remote site rather than at the operated site.

Inherited Lipid Disorders in Children: Experience from a Tertiary Care Centre.

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.

Rhinocerebral mucormycosis (RCM): To study the clinical spectrum and outcome of 61 cases of RCM managed at a tertiary care center in India.

Background: Mucormycosis is a life-threatening infection of the paranasal sinuses and nasal cavities that can easily spread to the orbit and the brain. It is caused by fungi of the family Mucoraceae. We present a case series of 61 patients diagnosed and treated for rhinocerebral mucormycosis (RCM) at a single tertiary health care center. Methods: After obtaining ethical clearance, all patient files with a final diagnosis of RCM were thoroughly analyzed in departmental records and a master chart was prepared. The study evaluated the etiology, clinical spectrum, diagnosis, management, complications, and outcome at 3 months of RCM cases. Results: About 93.4% of the RCM cases were diabetic and an equal number had a past history of COVID infection. About 85.2% had received steroids for the treatment of coronavirus disease 2019 infection. The most common presentation of RCM was temporal lobe abscess (25.7%) followed by frontal lobe abscess (16.6%). At 3 months post-diagnosis, mortality in our study was 42.6%. About 26.2 % of the RCM cases had no disease, 23% had a static disease, and 8.2% had progressive disease at the end of 3 months. Conclusion: We report the largest single-center case series of RCM, comprising 61 patients. This case series underscores the importance of the early diagnosis and prompt treatment for a better prognosis for this dreadful disease. The three pillars of treatment for RCM cases include reversal of the immunosuppressive state, administration of antifungal drugs, and extensive surgical debridement. In spite of all this, mortality remains high.

Spontaneous regression of herniated cervical disc: A case report and literature review.

BACKGROUND: We have reviewed 75 cases plus our own single instance of spontaneous regression of herniated cervical discs. METHODS: We searched PubMed and EMBASE databases (until September 2020) utilizing the following keywords; "spontaneous regression," "herniated cervical disc," and "Magnetic Resonance Imaging (MRI) studies." RESULTS: In the literature, we found 75 cases of herniated cervical discs which spontaneously regressed; to this, we added our case. Patients averaged 40.95 years of age. Discs were paracentral or foraminal in 84% of the cases, with most occurring at the C5-C6 (51%) and C6-C7 (36%) levels. Symptoms included neck pain/radiculopathy (91%) or myelopathy (9%). The average interval between initial presentation and spontaneous regression of herniated discs on MRI was 9.15 months. Interestingly, on MRI, extruded/sequestrated discs were more likely to undergo spontaneous regression versus protruding discs. CONCLUSION: Successive MRI studies documented the spontaneous regression of herniated cervical discs over an average of 9.15 months. Although this may prompt greater consideration for conservative treatment in younger patients without neurologic deficits, those with deficits should be considered for surgery.

Craniosynostosis: To Study the Spectrum and Outcome of Surgical Intervention at a Tertiary Referral Institute in India.

AIMS AND OBJECTIVES: This study aimed to analyze the spectrum and surgical outcome of cases of craniosynostosis operated at a tertiary referral institute in India. DESIGN: This was a cross-sectional study. MATERIALS AND METHODS: We retrospectively examined 60 cases of craniosynostosis operated at our institute from 2008 to 2014 (with a minimum follow-up of 2 years). Data was collected including name, age, gender, involved sutures, other medical conditions, whether syndromic craniosynostosis or not, whether symptoms and signs of intracranial hypertension were present or not, associated findings on magnetic resonance imaging of brain and cervico-medullary junction, type of surgery performed, age at which surgery was performed, perioperative complications (if any), and findings on follow-up. To be able to analyze the surgical results, we used the seven category classification system used by Sloan et al. RESULTS: Craniosynostosis affected more men than women. The incidence of syndromic craniosynostosis was 11.67%. Mean age at first surgery was 3.85 years. Chiari malformation was present in 80% of the Crouzon's syndrome cases, 62.5% of the oxycephaly cases, and 4.44% of the non-syndromic, non-oxycephaly cases. Intracranial hypertension was present in 80% of the Crouzon's syndrome cases, 75% of the oxycephaly cases, and 6.67% of the non-syndromic, non-oxycephaly cases. Perioperative complications were present in 42.86% of the syndromic craniosynostosis cases, 50% of the oxycephaly cases, and 15.56% of the non-syndromic, non-oxycephaly cases. Compromised overall correction was present in 4 of 7 cases of syndromic craniosynostosis, 3 of 8 cases of oxycephaly, and 2 of 45 cases of non-syndromic, non-oxycephaly group. CONCLUSION: The study highlights the importance of educating the masses so that cases of craniosynostosis present early. The incidence of Chiari malformation, intracranial hypertension, and perioperative complications was significantly higher in the syndromic craniosynostosis and oxycephaly groups than in single-suture craniosynostosis. The best surgical outcome and the least perioperative complications were seen in the trigonocephaly group. Compromised overall correction and reoperations were more common in the syndromic and complex craniosynostosis groups than in single-suture craniosynostosis.

Dorsal accessory ectopic breast with polythelia - A marker of occult spinal dysraphism.

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.

A rare case report of mixed olfactory neuroblastoma: Carcinoma with review of literature.

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 5th 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.