Shaila R. Khubchandani

Microvillous Inclusion Disease—An Ultrastructural Diagnosis: With a Review of the Literature

Microvillous inclusion disease is a rare disorder of infancy associated with protracted diarrhea. This malady reveals distinct ultrastructural changes. The surface enterocytes of the duodenum show vesicles lined with microvilli and the surface microvilli are poorly formed. The authors present one case of microvillous inclusion disease with a review of the literature.

Banded Collagen in the Kidney with Special Reference to Collagenofibrotic Glomerulopathy

Background: The normal glomerular basement membrane, composed of type IV collagen, plays an important function in the process of filtration. Rarely, type III, type I, or type V collagen is seen in the glomerulus, resulting in three different types of non-immune mediated glomerulopathies recognized thus far. These are characterized by deposition of banded collagen fibers in the glomerulus. Methods: The authors reviewed 4934 kidney biopsies submitted over the past 5 years. Five of these revealed the presence of banded collagen in the glomeruli. Conclusion: Combined clinical and ultrastructural examination has led to a definitive diagnosis. These diseases exhibit indolent progression and as yet do not have specific treatment.

Ultrastructure of the H. pylori Microbe in Individuals Having Macrocytosis and B12 Deficiency

The incidence of Helicobacter pylori gastritis is high in India and the number of individuals with vitamin B12 deficiency is also large. An association has been found between these two factors. It is necessary to determine whether H. pylori infection may be a factor in the causation of B12 deficiency and whether it is associated with any morphological changes on ultrastructural examination. A cohort-based study has been performed, which includes 505 young asymptomatic males. These cases have been investigated for presence of H. pylori and macrocytosis. The study confirms an association between H. pylori infection and B12 deficiency. It is recommended that H. pylori infection be looked for in subjects having macrocytosis of unknown etiology.

Glomerular basement membrane abnormalities in infants with heavy proteinuria

Two Indian male children with infantile-onset heavy proteinuria (with nephrotic syndrome in 1) had thickening of the glomerular basement membrane with splitting and basket-weave appearance of lamina densa on electron microscopic evaluation of kidney tissue (like Alports syndrome), with normal light microscopic findings and negative immunofluorescence. The proteinuria was non-familial and was not associated with microhaematuria in patient 1; transient microhaematuria, perhaps associated with urinary tract infection, was noted in patient 2. There was no neurosensory deafness in the patients or their parents. The nephrotic syndrome remitted totally in one patients over a 7-month period. The proteinuria, as well as the renal disease, was non-progressive in the second patient over a 27-month period. The significance of these basement membrane abnormalities (classically described in Alports syndrome) in early-onset nephrotic syndrome/heavy proteinuria that is non-familial and non-progressive needs to be evaluated.

Hydroxychloroquine-induced Phospholipidosis in a Case of SLE: The Wolf in Zebra Clothing

Abstract A 30 year old lady patient of SLE on steroid and hydroxychloroquine therapy presented with lupus nephritis and later developed cardiac symptoms. Her renal biopsy revealed features of Class III lupus nephritis. Also seen was typical lamellated myelinoid material in the glomerulus. The alpha-galactosidase A activity was normal. The clinical morphological and biochemical findings were consistent with Lupus nephritis showing changes of hydroxychloroquine induced phopholipidosis. Electron microscopy along with careful clinical examination and follow up status was instrumental in the diagnosis of the latter.

Desmoplastic non-infantile ganglioglioma: a low-grade tumor, report of two patients.

Desmoplastic infantile gangliogliomas (DIGG) are low-grade (WHO Grade I) tumors of early childhood rarely occurring in older children and young adults. The mainstay of treatment is surgical. We report two older children with DIGG, both showing atypical radiology. One case was treated with radiation. The recurrence treated with only surgical excision showed excellent response to treatment.

Stomach metastasis of breast carcinoma mimicking primary gastric neoplasm on fluorodeoxy glucose-positron emission tomography-computed tomography.

We present fluorodeoxy glucose positron emission tomography–computed tomography (FDG-PET/CT) findings in a case of breast carcinoma. The PET/CT findings in this case were suspicious of second primary neoplasm in the stomach. However, on endoscopic biopsy, the lesion was found to be stomach metastasis of breast carcinoma with estrogen receptor positivity. Stomach is a rare site of breast carcinoma metastasis. Our case suggests that it is difficult to distinguish a stomach metastasis of breast cancer from a primary gastric cancer on the basis of clinical and imaging features. However, this differential diagnosis must be kept in mind and it is important to make such distinction because of its implications on patient management.

A 10-year-old with proteinuria and collagen fibers in glomerular basement membrane: questions.

Light microscopy revealed normocellular glomeruli showing mild mesangial widening and focal mild basement membrane thickening on PAS stains (see fig. 1). Congo red stains were negative. Non-specific, faint deposits of IgG, IgM, IgA, C3, and C1q were seen along the capillary loops, not conforming to any diagnostic pattern. Ultrastructure revealed bundles of banded collagen in the focally vacuolated lamina densa (see fig. 2) as has been described in nail-patella syndrome (NPS). The foot processes were focally obliterated (see fig. 3). No electron dense deposits were seen. In view of the findings of the kidney biopsy, the patient was clinically and radiologically reassessed for all the features of nail-patella syndrome (NPS). Nails were unremarkable; the patient had normal patellae and no pelvic horns were seen radiologically. Other than mild pectus excavatum and bilateral in-turned fifth toes, there were no remarkable stigmata. Joint examination, especially of the elbows, was normal. In the absence of complete clinical, radiological, and laboratory data of the mother, it was not possible to exclude the possibility of nail–patella syndrome in her. Specific enquiry was, however, made about the clinical features of NPS in the deceased mother and this was not contributory.