Hereditary sensory and autonomic neuropathy type IV, commonly known as congenital insensitivity to pain with anhidrosis (CIPA), is a rare autosomal recessive disorder. It is characterized by a profound dysfunction of the sensory and autonomic nervous systems, leading to a global inability to perceive pain or temperature alongside a complete absence of sweating. Clinically, affected individuals typically present with a classic triad of symptoms: severe analgesia, a total lack of pain perception that frequently results in self-mutilation (such as biting the tongue, lips, and fingertips), recurrent fractures, and joint deformities; anhidrosis, which impairs body temperature regulation and often triggers life-threatening hyperpyrexia; and varying degrees of neurological involvement, including intellectual disability and behavioral challenges. This report details a case series within a single extended family involving two sisters and two of their paternal cousins (a brother and sister). All four patients presented with classic clinical hallmarks of CIPA, which were subsequently confirmed through genetic analysis. The patients exhibited multiple complications, including chronic infections and orthopedic injuries resulting from their lack of protective pain sensation. Managing CIPA requires a highly specialized, multidisciplinary approach to mitigate self-injury and manage febrile episodes.

Female genital mutilation (FGM) remains prevalent in parts of Kenya, sustained by social norms around marriageability and social belonging. Although community interventions to end FGM are widely implemented, quantitative evidence of their effectiveness remains limited. This study evaluated whether mixed-sex community dialogues and women-only reflection circles implemented through the Girl Generation-Africa-Led Movement Programme changed FGM-related beliefs, intentions, social norms, and opposition to FGM in Isiolo County, Kenya. We analysed cross-sectional survey data from 2,235 respondents aged 15-60 years (1,314 women and 921 men). Exposure was self-reported participation in community dialogues and, among women, women-only reflection circles. Outcomes were pro-FGM beliefs, intention to cut a daughter, belief that uncut girls are not marriageable, and opposition to FGM. Associations were estimated using logistic regression with generalized estimating equations, adjusting for socio-demographic covariates. Among women, predicted probabilities were estimated across four exposure combinations, while a survey-weighted generalized structural equation model assessed pathways linking community dialogues to opposition to FGM. Participation in community dialogues was associated with lower odds of pro-FGM beliefs (aOR 0.49, 95% CI: 0.40-0.60), intentions to cut a daughter (aOR 0.34, 95% CI: 0.27-0.45), and belief that uncut girls are not marriageable (aOR 0.40, 95% CI: 0.31-0.53), and with higher odds of opposing FGM (aOR 3.09, 95% CI: 2.27-4.22). Among women, reflection circles primarily reduced intentions to cut and increasing opposition to FGM. Combined exposure produced the strongest effects, reducing the predicted probability of intending to cut a daughter from 38.6% to 12.7% and increasing opposition to FGM from 61.9% to 86.0%. Approximately 95% of the effect of community dialogues on opposition to FGM was mediated through changes in beliefs, intentions, and marriageability norms, with intentions representing the strongest pathway. These findings demonstrate that layered, community-led social norms interventions can meaningfully accelerate abandonment of FGM in high-prevalence settings.

Gender dysphoria (GD) in adolescents requires timely, supervised gender-affirming care. We report a 16-year-old transgender girl in Bangladesh who, lacking access to formal services, self-initiated feminising hormone therapy with oestradiol and spironolactone and described substantial improvement over three and a half months. On psychiatric admission, the hormones were stopped because no clinician held prescribing authority for gender-affirming treatment in a minor and the provenance of her medication could not be verified; lithium, prescribed for anti-suicidal effect, was stopped the same day. She deteriorated and, on the thirteenth day, incised her scrotum in a premeditated attempt at bilateral orchiectomy requiring emergency repair, having stated that intention repeatedly. Means restriction, ligature-risk removal and family-delegated one-to-one observation had been in force since admission and remained so; the blade came from outside the hospital during a brief unsupervised interval. A modified scale for suicidal ideation the next day scored zero. These events occurred against a background of major depressive disorder diagnosed independently by three psychiatrists and suicidal ideation documented more than a year before she obtained any hormone. The case illustrates the absence of any option between unsupervised self-medication and complete cessation, and the limits of bedside means restriction on an open ward when a patient discloses a specific method.

Hereditary sensory and autonomic neuropathy type IV (HSAN IV), also known as congenital insensitivity to pain with anhidrosis (CIPA), is a very rare autosomal recessive neurological disorder caused by pathogenic variants in the NTRK1 gene. It is clinically characterized by insensitivity to pain, anhidrosis with recurrent febrile episodes, orthopedic complications secondary to repeated trauma, and, in some cases, intellectual disability. We report the case of a 43-year-old female patient with insensitivity to pain since the neonatal period, mild developmental delay, lingual self-mutilation, recurrent fever without infectious focus, Charcot-like joint deformities, and severe orthostatic hypotension. Neurological examination revealed generalized hypoalgesia and distal weakness in the lower limbs, corroborated by electrophysiological studies. Lumbar spine magnetic resonance demonstrated severe structural involvement, and Ewing's test documented both sympathetic and parasympathetic autonomic dysfunction. Genetic analysis identified the pathogenic NTRK1 variant (NM_002529.4): c.2311C>T; p.(Arg771Cys) in homozygosity, previously reported in individuals with CIPA. This finding was confirmed by intrafamilial segregation analysis, which demonstrated the homozygous status of the patient and heterozygous carrier status in her siblings. We present this case because of its rarity, its molecular confirmation, and its remarkable clinical manifestations, highlighting the importance of genetic diagnosis in rare neurological diseases.

Rabies is a universally fatal viral disease that affects a wide variety of mammalian species, including carnivores and herbivores. While testing and confirmed reports in wild carnivores are common, comparatively less is known about this disease in wild herbivores. Between 2022 and 2024, nine white-tailed deer (Odocoileus virginianus) in Pennsylvania, USA were diagnosed with rabies. Eight (89%) presented with erratic neurologic signs and one was found dead. Evidence of chronic self-mutilation characterized by hair loss and thickened, hardened, and hyperpigmented skin was present on the head in seven cases (78%) and/or body or legs in two cases (22%), while two (22%) did not have any evidence of external lesions. Microscopically, lesions were like those in other mammalian species, with variably severe inflammation and abundant cytoplasmic inclusion bodies with associated antigen immunoreactivity. This case series highlights a common and characteristic gross lesion that can prompt caution and testing for rabies in deer and further expands understanding of this disease in an uncommonly diagnosed species.

To describe epidural injection for neuropathic pain in dogs and cats and report outcome.

A captive male Japanese raccoon dog died after self-mutilation by biting its tail and developing anorexia. At necropsy, ulceration of the tail root and pelvic region, an abdominal mass, multifocal nodules in the lungs, and thrombi in the heart were observed. Histopathological examinations revealed multifocal pyogranulomatous inflammation in the lungs, abdominal mass, spleen, brain, liver, and kidneys. Gram-positive bacterial aggregates were observed in the lungs, abdominal mass, and spleen. These organisms were partially acid-fast and periodic acid-Schiff-positive, and branching filaments were observed on Grocott's methenamine silver staining. Nocardia aobensis was identified in the abdominal mass by PCR and sequence analysis. These findings suggest that N. aobensis should be considered a potential cause of disseminated pyogranulomatous disease in animals.

Lesch–Nyhan syndrome is an X-linked inborn error of metabolism caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), a key enzyme in the purine salvage pathway. HPRT catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate, thereby facilitating purine recycling and regulating de novo purine synthesis. Enzyme deficiency results in the accumulation of hypoxanthine and guanine, which are subsequently oxidized to uric acid, leading to hyperuricemia. HPRT deficiency manifests as a clinical spectrum that correlates with residual enzyme activity. Classic Lesch-Nyhan syndrome, associated with less than 1.5% enzyme activity, represents the severe end of the spectrum and is characterized by marked hyperuricemia, global developmental delay, extrapyramidal movement disorders (including dystonia and choreoathetosis), and the hallmark self-injurious behavior. Intermediate phenotypes, with residual activity of approximately 1.5% to 2%, present with hyperuricemia accompanied by neurological impairment, such as dystonia, choreoathetosis, spasticity, and intellectual disability, but without the classic self-mutilation. Milder variants, termed Kelley-Seegmiller syndrome (residual activity 8% to 60%), are typically limited to hyperuricemia and its related complications without significant neurological involvement.