Optimising the management of children with concomitant bladder dysfunction and behavioural disorders.

Bladder dysfunction and behavioural disorders in children are commonly concomitant; hence, it is difficult to treat each in isolation. Pharmacotherapy is common treatment for behavioural disorders, and these medications may have intended or unintended positive or negative bladder sequelae. This review identifies the literature regarding the effects of behavioural pharmacotherapy on bladder functioning and possible bladder management strategies in children with concomitant behaviour and bladder disorders to enable clinicians to better manage both conditions. A PROSPERO registered PRISMA-guided review of three major databases was performed. After an initial scoping study revealed significant heterogeneity, a narrative approach was undertaken to discuss the results of all relevant cases relating to children being treated with pharmacotherapy for behaviour disorders and outcomes related to bladder function. Studies were screened to identify those that described effects of commonly prescribed medications in children with behavioural disorders such as stimulants, alpha 2 agonists, tricyclic antidepressants (TCA), serotonin and noradrenergic reuptake inhibitors (SNRI), selective serotonin reuptake inhibitors (SSRI) and antipsychotics, and the findings and implications were summarised. The review identified 46 studies relevant to behavioural pharmacotherapy and bladder function (stimulants (n = 9), alpha 2 agonists (n = 2), TCAs (n = 7), SNRIs (n = 8), SSRIs (n = 8) and antipsychotics (n = 6). Six studies focused specifically on bladder management in children with behavioural disorders with concurrent behavioural pharmacotherapy. This review identifies useful factors that may assist clinicians with predicting unintended bladder effects following initiation of behavioural pharmacotherapy to facilitate the best approach to the treatment of bladder dysfunction in children with behavioural disorders. With this evidence, we have provided a useful decision-making algorithm to aide clinicians in the management of these dual pathologies.

Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease.

Menkes disease (MD) usually presents in infancy with respiratory and neurological complications. Severe isolated vasculo-connective tissue involvement in infancy is rare, and hence the precise and timely diagnosis is difficult. We report a case of an 8-week-old male infant who succumbed to acute, severe exsanguination, and hemorrhagic shock secondary to a large retroperitoneal hematoma due to rupture of a right iliac artery aneurysm. Perimortem musculoskeletal findings raised suspicion of nonaccidental injury. However, postmortem review of facial traits raised the suspicion of MD. MD was subsequently confirmed on genetic testing. Child health clinicians must remain aware of MD as a rare cause of infant vasculopathy or atypical skeletal abnormalities.

Colo-colonic intussusception secondary to a lipomatous lesion in an asymptomatic patient.

Colo-colonic intussusception is a rare clinical condition in adults. The predominant aetiology of intussusception in adults is a pathological lead point, with malignant lesions being the most common type. Lipomas are benign tumours of adipocytes that can sometimes be difficult to diagnose without histopathological confirmation as we highlight with this case report. We report a case of an asymptomatic female patient in her 50s who presented with an intussusception due to a giant colonic lipoma. Her CT imaging showed the possibility of a low-grade liposarcomatous component or atypical lipomatous tumour component. A laparoscopic right hemicolectomy was performed due to intussusception with the possibility of leading to colonic obstruction as well as diagnostic uncertainty of the risk of malignancy. Histopathology confirmed the diagnosis of a lipomatous lesion. In cases such as this, early surgical management is appropriate to rule out malignancy and prevent emergency presentation and surgery.

Effectiveness of standard urotherapy (basic bladder advice) and combination therapies in managing bladder dysfunction in children with treated behavioral disorders: Results of a prospective cohort (DABBED) study.

AIMS: We evaluated the efficacy of standard urotherapy and combination therapies in treatment of bladder dysfunction in children with treated behavioral disorders. METHODS: Prospective study of children (6-16 years) with bladder dysfunction and behavioral disorders was conducted between March 2018-2020. Eligible children were initially offered standard urotherapy and those with no response at 3 months were offered combination therapies. Symptomatic response, changes in Akbal score and PinQ score were reported at 6 months and outcomes were correlated to behavioral diagnoses and medications. RESULTS: Thirty-nine consecutive children (male = 27, mean age [SD] 10.3 [±2.0] years) were recruited, of whom 29 completed the study (five lost to follow-up, three non-compliant to treatment, two excluded). Thirty-four (87%) children had attention deficit/hyperactivity disorder. Monosymptomatic nocturnal enuresis (n = 11) and non-monosymptomatic enuresis (n = 17) were the commonest diagnoses. Following 3-month review, 14 (38%) children continued to receive standard urotherapy, while 15 (41%) children were transitioned to combination therapy. At 6-month review, complete/partial response was seen in 62% (23/37) and no response in 16% (6/37); with 32% (12/37) responding to standard urotherapy alone. Akbal symptom scores (15.9-11.5; P < 0.01) and PinQ scores (26.0-19.5; P = 0.008) improved significantly at 6-month follow-up. Type of underlying behavioral disorder(s) or medications for behavioral disorder did not influence the outcomes. CONCLUSION: This study confirms that children with underlying behavioral disorders are able to have a good response to the appropriate therapy for their bladder dysfunction with a third of children responding to standard urotherapy alone.

Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature.

Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the IRF6 which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and genital anomalies in PPS. We report a case of VWS with the previously unrecognised phenotypic feature of hemiscrotal agenesis. While bifid scrotum has been reported in the more severe PPS, neither VWS nor PPS have previously noted hemiscrotal agenesis as part of the phenotypic picture. Hemiscrotal agenesis without evidence of any genetic anomaly has only been reported four times in the literature to date with two of these being accompanied by complete testicular descent. Treatment options include topical androgen application and/or scrotoplasty to allow for adequate testicular thermoregulation and development to occur.

Is excision of testicular nubbin necessary in vanishing testis syndrome?

BACKGROUND/PURPOSE: Vanishing Testes Syndrome1 (VTS) is one of the most common causes of impalpable testes in children. The role of removal of testicular nubbins owing to malignant potential in VTS is unclear. We sought to evaluate whether testicular nubbins need to be excised owing to this potential. METHODS: We conducted a retrospective review of children with a clinical diagnosis of impalpable testes aged 0-18 who presented to our tertiary hospital between 2007 and 2017. VTS was defined as the presence of hypoplastic vas entering a closed internal inguinal ring or remnants of gonadal tissue distally. Data collected included: age at operation, need for laparoscopy, location of nubbin and histopathological findings. RESULTS: We identified 50 consecutive children (mean age 2.4 years, range: 7 months to 12 years) with a clinical diagnosis of impalpable testis. Forty-eight of the 50 underwent laparoscopy with no testicle palpable when examined under anesthesia. Thirty-three children had VTS confirmed at laparoscopy and testicular nubbins identified with three of these being bilateral. Thirty-two children had these nubbins excised with histopathology available for 31 individual testes. Thirty were confirmed testicular nubbins with no viable testicular tissue. No malignancies were identified. CONCLUSION: Results from this study show that testicular nubbins do not have viable germ cells and therefore do not need to be excised on the basis of malignant potential of residual testicular tissue. LEVEL OF EVIDENCE: Level IV treatment study.