INHS Asvini

Abstract Introduction: Disembarkment Syndrome or Mal de debarquement syndrome (MdDS) is a clinical syndrome characterized by vertigo, which is non-spinning and present continuously or for most of the day. The onset of this vertigo occurs within 48 hours after the end of exposure to passive motion. Vertigo of MdDS temporarily reduces on exposure to passive motion, and it persists for more than 48 hours. The literature on this condition is relatively sparse. This study is aimed to assess the prevalence of MdDS among professional maritime workers, to assess their associated symptoms and the effect of MdDS on their quality of life (QoL). Methods: This study was a questionnaire based cross sectional survey among professional maritime workers in India. Participants were requested to respond to a set of comprehensive questions regarding demographic details, duration of sailing and symptomatology pertaining to MdDS. Diagnosis of MdDS was done by using diagnostic criteria given by Barany society. Data were compiled on an excel sheet and results were analyzed. Results: 322 maritime workers participated in the survey. Among 322 maritime workers, 107 had some form of vertigo following sailing and among them 42 maritime workers fulfilled the diagnostic criteria for MdDS as per Barany Society. The study has determined that the prevalence of MdDS among professional maritime workers in India is 13.98% of which 3.1% have “transient MdDS”, 10.25% have “persistent MdDS” and 2.48% have “MdDS in evolution”. Discussion: The main differential diagnoses for MdDS include vestibular migraine, motion sickness and persistent postural perceptual dizziness. The results of this study may aid in diagnosing this specific clinical condition, especially when faced with a diagnostic dilemma when all neurotological investigations are normal. This may help in counselling the maritime workers about the benign nature of the condition, reassurance and stress relief.

Dear Editor, A child presenting with macrocephaly poses a diagnostic dilemma due to its varied etiologies. It has to be investigated, and neuroimaging plays an essential role in it. There are varied imaging phenotypes described (not present in all cases), and in our case, we describe imaging findings in brain and spine – not described earlier – in a genetically proven case of megalencephaly–polymicrogyria–polydactyly hydrocephalus (MPPH) syndrome. Although many heritable or nonheritable causes are identified, few rare syndromes with their genetic basis are also being increasingly identified.[1] In 2004, a syndrome with anatomical MPPH was described, with more and more clinical and radiological findings being added to describe this condition. Recently, we came across a 9-year-old boy with normal antenatal history and without history of consanguinity brought by the parents with complaints of global developmental delay, seizures, and autism spectrum disorder (ASD). His magnetic resonance imaging (MRI) brain and screening of spine were done, and findings were recorded [Figure 1a-h].Figure 1: (a and b) Arrows represent bilateral perisylvian polymicrogyria (BPP) (T2WI axial brain, T2WI coronal brain; respectively); (c and d) Arrows represent BPP and a small posterior fossa without Chiari malformation (T1WI inversion recovery coronal brain, T2WI sagittal spine; respectively); (e and f) Arrows represent normal cerebrovertebral junction and presence of thoracic cord syrinx (T2WI sagittal cervical spine, T2WI sagittal dorsolumbar spine; respectively); (g and h) Arrows represent long-segment syringomyelia involving the central part of cord (T2WI sagittal cervicodorsal spine, T2WI axial dorsal/thoracic spine; respectively)MRI revealed hydrocephalus, megalencephaly, bilateral perisylvian polymicrogyria (BPP) [Figure 1a-c], small posterior fossa, and syringomyelia without evidence of Chiari malformation [Figure 1d-h]. Though most of the MRI findings are described, the presence of syringomyelia without Chiari malformation is being reported for the first time. Furthermore, generalized small posterior fossa has not been reported, though hypoplasia of the brainstem has been reported earlier. MPPH is a relatively recently described disorder with 100 or less cases reported till date.[2] It presents with big size of head, polydactyly, developmental delay, autism, seizures, etc. There is absence of any cutaneous vascular malformations. Our patient had postaxial polydactyly and neurological manifestations. Apart from findings described in a classic case, note was made of unique MRI findings not described earlier. Isolated syringomyelia in the absence of Chiari malformation and small posterior fossa have not been reported, till date. Our case has long-segment syrinx involving the 5th–12th thoracic vertebral levels. The cerebrovertebral junction and cerebellar tonsils were unremarkable. Hence, it is the first case report in the world to show the presence of syringomyelia in the absence of Chiari malformation in a genetically proven (PIK3R2 gain of function mutation) case of MPPH syndrome, which itself is very rare (100 or less cases reported till now). Out of the two cases described to have syrinx,[2] one had germline AKT 3 mutation and associated type 1 Chiari malformation.[3] Another case had a CCND 2 variant. It had brainstem hypoplasia and cervical cord syrinx.[4] Till date, dorsal or thoracic cord long-segment syringomyelia has not been described in the absence of Chiari malformation,[5] that too, in a genetically proven case of PIK3R2 gain of function.[2,3] More and more research is required to explain the presence of syrinx in these cases. The mechanism to explain syrinx in a case of Chiari malformation may not hold true in MPPH syndrome, as in our case. It is also interesting to note whether our case can lead to a genetic basis of the development of syrinx. Colpocephaly in the absence of overt hydrocephalus has also been described in MPPH syndrome.[6] Our patient has a gain-of-function PIK3R2, which is strongly associated with BPP and the most common genetic cause of MPPH.[7] It encodes key proteins within the mammalian target of rapamycin pathway. This pathogenic gain-of-function variants in PIK3R2 occur in sporadic tumors, particularly endometrial cancer, in the absence of any other findings of MPPH syndrome.[8] The presence of this mutation with syringomyelia in the absence of Chiari malformation has not been described till date, and here, a report is made to this association, which adds to the scarce literature available about this rare condition.[8] Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that the name and initials will not be published and due efforts will be made to conceal the patient identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Abstract A 32-day-old male child was brought by parents with complaints of incomplete eyelid closure, associated with redness and watering. After a thorough ophthalmological and systemic examination, a diagnosis of isolated congenital microblepharon, complicated with exposure keratopathy was made. Prompt surgical correction of bilateral upper and lower eyelids was carried out using full-thickness skin graft and lateral tarsal strip suspension. At last, follow-up to 6 months, there was a good graft uptake with no lagophthalmos and complete correction of keratopathy. Isolated congenital bilateral microblepharon is an extremely rare, but important clinical entity that requires early diagnosis and prompt management to prevent visual morbidity. The use of skin grafts and lateral tarsal strip suspension surgery is an effective surgical strategy with good functional and cosmetic outcome in severe cases. This study is noteworthy for the early diagnosis and extensive surgical correction in a 32-day-old child, making it a strong case in favor of early definitive surgical treatment in such cases.

Abstract Background: Cutaneous granulomatous lesions are a heterogeneous group of disorders with skin inflammatory reaction which is caused by a wide variety of agents including infectious, foreign bodies, malignancies, metabolites, and chemicals. Granulomas are a type of type IV hypersensitivity reactions due to by poorly soluble reactive substances characterized by a focal collection of epithelioid cells, histiocytes mixed with variable number of lymphocytes and sometimes giant cells. They are a common skin pathology, often needing histopathological confirmation for diagnosis. The incidence and prevalence of different types of granulomatous lesions of skin depends on the geographic location. Granulomatous skin lesions can be histologically classified broadly into either necrotizing and non-necrotizing patterns. Histologically, six major subtypes of granulomas are found in granulomatous skin diseases – tuberculoid, sarcoidal, necrobiotic, suppurative, foreign body, and histoid/histiocytic type. Materials and Methods: This was a retrospective analysis of lesions labeled as granulomatous lesions. Skin biopsies received in the Department of Pathology, INHS Asvini,from January 2014 to December 2015 were studied. Detailed clinical and histopathological features were analyzed, and granulomatous skin lesions were categorized according to type of granuloma and etiology. Results: One hundred and thirty-six skin biopsies of granulomatous lesions were received, of which tuberculoid granulomas were the most common (67.4%), and the most common etiology of granulomas inthe study was leprosy. Other etiologies were cutaneous tuberculosis, foreign body granulomas, fungal lesions, sarcoidosis, and granuloma annulare. Conclusion: The aims of the present study were clinicopathological evaluation of granulomatous skin lesions and their etiological classification based on histopathological examination.Many granulomatous lesions of skin have similar histomorphology findings and conversely a single aetiology can produce a spectrum of histological features leading to diagnostic confusion among dermatologists and Pathologists. To treat these lesions, definitive diagnosis by the demonstration of the etiological agent is essential, which will bear an impact on the patient management and outcome.

Abstract Linear porokeratosis, a rare keratinization disorder, presents diagnostic challenges due to its clinical similarity to linear epidermal verrucous nevus and other linear dermatoses. We report a 10-year-old girl with pruritic, linear, hyperpigmented papules and plaques on the right forearm, progressing over 5 years with scarring from prior dermabrasion. Dermoscopy revealed a serpiginous double-edged keratin rim, collarette scales, follicular plugs, and a ring-in-ring appearance. At the same time, histopathology confirmed cornoid lamellae with parakeratotic columns, absent granular layer, dyskeratotic cells, and dermal melanophages. Treatment with topical tretinoin (0.05%) applied nightly achieved near-complete clearance within 4 months. This case underscores the critical role of dermoscopy and histopathology in distinguishing linear porokeratosis from mimics, ensuring accurate diagnosis. The efficacy of topical tretinoin in pediatric patients highlights the importance of tailored therapeutic approaches to prevent complications such as scarring or malignant transformation.

Pseudoaneurysms of the popliteal artery can lead to serious complications such as hemorrhage following rupture of the pseudoaneurysm, venous compression by a large pseudoaneurysm, and thrombosis or embolization leading to limb ischemia, and a possibility of limb loss. We present and discuss a case of pseudoaneurysm of the popliteal artery following arthroscopic lateral meniscus root repair in a young male and the treatment strategies for the same.