NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL

Investigating the evolution of sensory processing disorders and their role in the development of psychopathology

Maria do Rosário Monteiro — 2025-01-15

Introduction: Sensory processing disorder (SPD), as outlined in the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC: 0-5), is characterized by behavioral patterns of atypical responses to sensory stimuli in infants and young children, which can significantly impact the child’s daily functioning. While SPD is recognized as potentially co-occurring with physiological challenges and as a precursor to future difficulties, there is limited understanding of how the condition evolves into other diagnostic categories over time. The aim of this study was to longitudinally characterize the progression of children diagnosed with SPD and their transition to the development of other psychopathological conditions.
Methods: Ninety children aged 1 to 5 years diagnosed with regulation disorders of sensory processing (RDSP) according to the DC:0-3R classification system in use at the time were included between 2008 and 2014. Sociodemographic data were collected at the time of diagnosis and during follow-up, and a comprehensive overview of the evolving diagnostic categories for each patient over the years based on the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) criteria, was provided.
Results: The retrospective analysis revealed that, at the time of diagnosis, 60% of the children had global developmental delay and 24.5% had comorbid diagnoses. During follow-up, most children (64.4%) were diagnosed with attention-deficit/hyperactivity disorder (ADHD), followed by 17.8% with intellectual developmental disorder and 13.3% with autism spectrum disorder.
Discussion: Although a causal relationship was found only between the impulsive type of RDSP and ADHD, this study highlights the high prevalence of psychiatric disorders in children with a history of sensory regulation difficulties. The findings underscore the need for larger and more diverse studies to draw robust conclusions and better understand these associations.

Comparison of laboratory features of pediatric multisystem inflammatory syndrome with other invasive febrile diseases

Inês Tovim — 2025-01-15

Introduction: COVID-19 does not seem to affect children as much as adults. However, a new emerging entity associated with COVID-19, called multisystem inflammatory syndrome in children (MIS-C), has been reported. The aim of this study was to compare the laboratory characteristics of children with MIS-C and other invasive febrile diseases.
Methods: A single-center prospective study was conducted in a Pediatric Intensive Care Unit of a university hospital. The same laboratory panel was performed in both groups: C-reactive protein, procalcitonin, erythrocyte sedimentation rate, interleukin-6, N-terminal pro-B-type natriuretic peptide, troponin T, ferritin, activated partial thromboplastin time, prothrombin time, fibrinogen, and lymphocyte count.
Results: Forty-one patients were included, twenty-four in the MIS-C group and seventeen in the non-MIS-C group. MIS-C predominantly affected older children and adolescents (median age 12 years). Lymphopenia was identified in every patient in the MIS-C group. NT-proBNP, troponin T, CRP, ESR, and fibrinogen levels were significantly higher in the MIS-C group. IL-6 levels were similar between the two groups (p=0.745).
Conclusions: Patients with MIS-C had a laboratory profile characterized by elevated cardiac and inflammatory markers, with lymphopenia being a common feature. IL-6 levels should be interpreted with caution for therapeutic decisions in patients with MIS-C, as they are similar to those seen in patients with other febrile diseases.

Unplanned teenage pregnancy and adolescent sexual behavior

Ana Andrade — 2025-01-15

The teenage years are a pivotal period of physical and psychological change. These formative years play a critical role in shaping an individual’s transition to adulthood. Early childbearing or pregnancy, especially if unplanned, can significantly disrupt a young woman’s development, adversely affecting her health, education, and future income potential. Pregnant teenagers are often pressured to drop out of school, with implications in their educational opportunities and career prospects. Understanding the long-term consequences of teenage pregnancy is essential to developing effective interventions and addressing its underlying causes. This narrative review examines the incidence, risk factors, impact, and preventive measures associated with teenage pregnancy.
Worldwide, the incidence of pregnancy before the age of 18 is approximately 15%. Teenage pregnancy is closely related to adolescent sexual behavior. While condom use has slightly declined, awareness of the associated risks – such as sexually transmitted infections (STIs) and unplanned pregnancy – remains a major concern. Several interrelated risk factors contribute to this problem, including age, education level, economic status, mental health, and family environment. Moreover, teenage pregnancy is associated with adverse obstetric outcomes, including preterm birth and low birth weight, as well as higher rates of psychiatric disorders and socioeconomic challenges. The implementation of evidence-based prevention strategies, such as family and community involvement, is crucial. In Portugal, laws support sex education, access to contraception, and voluntary termination of pregnancy. Although the birth rate among Portuguese teenagers has declined significantly since the 1970s, it remains a major public health concern. Addressing the social, physical, and mental health risks associated with adolescent pregnancy requires a comprehensive approach that includes sexual education, accessible health services, mental health support, and promotion of contraceptive use among both girls and boys.

Overlapping dimensions of autism spectrum disorder and attention-deficit/hyperactivity disorder

Carolina Castro — 2025-01-15

This article provides a comprehensive review of the overlap between autism spectrum disorder and attention-deficit/hyperactivity disorder. It also examines the challenges that these overlaps pose in making accurate differential diagnoses and developing effective treatments.

A rare cause of constipation

Sara Monteiro — 2025-01-15

In Pediatrics, functional etiology accounts for the vast majority of constipation cases, while neoplastic etiology is rare. The authors describe the case of a 14-year-old male with a history of constipation that progressively worsened and became refractory to medical treatment. On physical examination, the patient had a distended and painful abdomen with a palpable mass in the hypogastric region. An abdominopelvic computed tomography scan revealed multiple masses highly suggestive of a neoplastic process. Anatomopathologic examination confirmed the diagnosis of desmoplastic small round cell tumor (DSRCT). DSRCT is an extremely rare and aggressive malignancy that can present without constitutional symptoms. This case highlights the importance of recognizing warning signs in patients presenting with constipation.

Congenital birthmarks: A common finding in newborns

Cátia Martins — 2025-01-15

Epidermal nevi are generally benign, isolated conditions, occurring in approximately 1 to 3 per 1,000 newborns, with sebaceous nevi accounting for approximately half of cases. The authors present two clinical cases of newborns with different subtypes of congenital epidermal nevi: a papillomatous epidermal nevus and a sebaceous nevus.
Epidermal nevi typically present as a single benign lesion. However, in some cases − especially when the lesions are large or extensive − they may be associated with syndromic forms involving other organs, most commonly the brain, eye, and skeletal systems. Early recognition of these skin lesions at birth is crucial, as it allows fot appropriate clinical management and early detection of any extracutaneous abnormalities.

Terra firma-forme dermatosis

Cindy Gomes — 2025-01-15

This report describes a case of terra firma-forme dermatosis in an adolescent presenting with brownish hyperpigmented lesions on both hands, an uncommon site for this condition.
Terra firma-forme dermatosis is a benign condition that is probably more common than reported in the literature and typically occurs in individuals with adequate hygiene practices. Diagnosis and treatment are straightforward and involve the application of 70% isopropyl alcohol, which effectively clears the lesions.

Vulvar mass in a newborn: Should we worry?

Madalena Torrado Malato — 2025-01-15

The authors describe the case of a newborn female with an ovoid interlabial genital mass, anterior to the vaginal introitus. The diagnosis of paraurethral cyst or Skene’s duct cyst was established. This diagnosis is clinical and it is important to be aware of the differential diagnoses. Management is conservative in most cases, with spontaneous resolution within weeks. The condition has a favorable prognosis.

Epiphyseal separation of the proximal humerus in a preterm newborn

Sara Rodrigues — 2025-01-15

Introduction: Epiphyseal separation of the proximal humerus at birth is a rare injury and its diagnosis can be challenging.
Case report: A 28-week preterm newborn was delivered by emergency cesarean section. After a difficult extraction, the newborn presented with ecchymosis and swelling of the right shoulder and internal rotation of the right upper arm. Although the initial radiograph suggested shoulder dislocation, ultrasonography revealed epiphyseal separation of the proximal humerus.
Discussion: Due to the unossified epiphysis in neonates, radiographic findings of epiphyseal separation may be misinterpreted as normal. Ultrasonography provides a more reliable diagnostic tool, allowing early and accurate identification. Given the high remodeling potential of the proximal humerus, these injuries are typically managed conservatively and have an excellent prognosis.
Conclusion: This case highlights the importance of timely and accurate diagnosis of epiphyseal separation in newborns following traumatic birth. Prompt diagnosis allowed for conservative management of the patient, successfully preventing long-term sequelae.

Eosinophilic esophagitis and somatic symptom disorder: A case report

Márcia Rodrigues — 2025-01-15

This report describes the case of a 12-year-old male adolescent who presented with anxiety and somatic symptoms manifested as globus pharyngeus sensation and dysphagia following the diagnosis of eosinophilic esophagitis (EoE). Despite histologic and clinical improvement of EoE after treatment, the patient developed a persistent fear of swallowing solid food, accompanied by a sensation of a lump in the throat during meals. His psycho-affective immaturity was also noted. Due to the pervasiveness and functional impairment caused by anxiety and somatic symptoms, pharmacological treatment with oral sertraline solution was initiated. After four weeks of treatment, the patient showed significant improvement, regaining the ability to swallow solid food without the sensation of globus pharyngeus. In addition to pharmacologic therapy, cognitive-behavioral strategies were used to manage his symptoms. This case highlights the importance of considering the interplay between organic etiologies and psychological factors in the multidimensional management of anxiety and somatic symptom disorders.

Successful management of a fetal mediastinal teratoma − Case report

Carolina Castro de Carvalho — 2025-01-15

Fetal mediastinal teratomas are rare tumors that can cause prenatal hydrops and respiratory distress during the neonatal period. Given their rarity and potential for serious complications, these cases require management by a multidisciplinary team of experts, ideally within a specialized referral center.
The authors describe the case of a primigravida with a fetal mediastinal teratoma who was managed expectantly during the prenatal period with serial ultrasound and magnetic resonance imaging at a multidisciplinary fetal medicine and surgery center. One month after birth, the newborn underwent thoracotomy and mass excision, with favorable clinical evolution at six months follow-up.

A rare case of brain abscess following professional dental cleaning

Lisa Soares — 2025-01-15

Brain abscess is a rare infection of the central nervous system in childhood. The clinical presentation is usually nonspecific, making its diagnosis challenging. The etiology is varied. Less invasive oral procedures are a rare potential cause of hematogenous dissemination of microorganisms to the brain.
Herein is presented the case of an adolescent who presented to the Emergency Department with complaints of headache three weeks after a professional dental cleaning. A brain abscess was diagnosed and Streptococcus viridans, usually associated with oral mucosal infections, was isolated. The boy was successfully treated with needle aspiration of the abscess and a six-week course of antibiotic therapy.
This case highlights the importance of improving knowledge of this entity to ensure timely diagnosis and treatment, ultimately improving patient outcomes.

Delusion, obsession, or both? – Clinical case

Francisca Bastos Maia — 2025-01-15

Introduction: Obsessions and delusions are part of a spectrum of irrational thoughts, with obsessions typically associated with insight and delusions characterized by a lack of insight. However, the concept of "obsessions without insight" has been incorporated into diagnostic criteria in recent years. This case report aims to explore the differential diagnosis between psychosis and obsessive-compulsive disorder (OCD) in an 11-year-old boy.
Case description: An 11-year-old boy was admitted to the Child and Adolescent Psychiatry Emergency Department for behavioral changes with four months of evolution. These changes included episodes of aggression toward his mother. In addition, the mother reported that he had developed an obsessive fixation on reading, refused to engage with any form of technology, and reacted angrily when his parents used electronic devices.
Conclusion: The overlap between psychotic symptoms and OCD-related symptoms is well documented in the literature and often complicates diagnosis and treatment. In this case, the lack of insight and positive therapeutic response to risperidone supported the diagnosis of psychosis over OCD.

Wieacker-Wolff syndrome - A rare X-linked hereditary disorder

João Dias — 2025-01-15

Wieacker-Wolff syndrome (WWS) is an X-linked disorder caused by a pathogenic mutation in the ZC4H2 gene. It affects both the central and peripheral nervous systems.
The authors describe the case of a six-year-old boy with global developmental delay since the age of four months, with marked axial hypotonia. He had a history of bilateral clubfoot, feeding difficulties, and recurrent respiratory infections. Physical examination revealed a long and flat philtrum, low-set ears, arched palate, and a carp-shaped mouth. The child currently has intellectual disability, epilepsy, and lower limb spasticity. Clinical exome sequencing revealed the presence of a mutation in the ZC4H2 gene, confirming the diagnosis of WWS, a rare condition.
With this case, the authors intend to highlight the importance of evaluating early signs of musculoskeletal deformities and hypotonia in the first months of life. Besides confirming the etiologic diagnosis, the genetic study allows to anticipate associated conditions, tailor interventions, and provide family counseling.

Artificial Intelligence in healthcare

Rui Nunes — 2025-01-15