UNASSIGNED: The clinical picture of intracerebral calcification is so varied that it constitutes an essential element of a wide range of clinical syndromes of variable expression that continue to be described. In this article, we discuss the diagnostic possibilities of basal ganglia calcification considering the association of failure to thrive and macular degeneration in our patient.
UNASSIGNED: A 17-year-old male patient of Congolese origin consulted us for a pyramidal syndrome consisting of upper limb tremors during mobilization and dysgraphia. The patient also presented with a distance vision disorder for which the ophthalmological examination revealed poor visual acuity in both eyes (2/10) and macular degeneration in the left eye. On physical examination, we noted a short stature with a small head circumference in relation to age. The brain scan revealed the presence of bilateral striato-pallidal calcifications giving the appearance of Fahr\'s disease. However, the association of delay of stature development with microcrania, macular degeneration with reduced visual acuity and basal ganglia calcifications could suggest a wide range of syndromic hypotheses, the most likely of which is Rajab-type cerebral calcification.
UNASSIGNED: The association of failure to thrive, macular degeneration, and cerebral calcification of the basal ganglia is revealed as a particular phenotype compared to cases reported in the literature. An in-depth analysis would be necessary to identify a possible genetic basis.

AbstractMorning Report is a time-honored tradition where physicians-in-training present cases to their colleagues and clinical experts to collaboratively examine an interesting patient presentation. The Morning Report section seeks to carry on this tradition by presenting a patient\'s chief concern and story, inviting the reader to develop a differential diagnosis and discover the diagnosis alongside the authors of the case. This report examines the story of a 15-month-old with faltering growth and short stature. Using questions, physical examination, and testing, an illness script for the presentation emerges. As the clinical course progresses, the differential is refined until a diagnosis is made.

Pseudohypoaldosteronism type 1 is a rare congenital autosomal recessive disorder, characterised by failure of receptor response to aldosterone. It is caused by mutation in SCNN1A gene with clinical features like failure to thrive in infancy, hyponatraemia, hyperkalaemia and metabolic acidosis. We present a male infant with seizures, hyperkalaemia and with failure to thrive, diagnosed at day 6 of life. The baby required repeated correction for hyperkalaemia; hence, after ruling out treatable causes for hyperkalaemia, exonerated sequencing was done which showed pathogenic mutation for cystic fibrosis and recessive mutation for pseudohypoaldosteronism. But the child was clinically in favour of pseudohypoaldosteronism. Hence, features of pseudohypoaldosteronism predominate cystic fibrosis; they both may coexist.

The geriatric failure to thrive, a controversial French concept not present in the international literature, was first characterized by Jean Carrié in 1956. It is described as a process of aging and physical and psychological decline associated with advanced age, manifesting as a pronounced overall deterioration. In this case report, we present the case of an 88-year-old patient, admitted to a general medicine service for geriatric failure to thrive, whose management eventually leads to the diagnosis of endocarditis with digestive cancer complicated by a characterized depressive episode. This case prompts us to consider the geriatric failure to thrive with extreme caution and challenges the legitimacy of such a diagnosis in the context of an aging population and the progress of medical sciences.

A 4-month-old full-term female presented with growth faltering associated with progressive feeding difficulty, rash, abdominal distension, and developmental delays. She was found to have disconjugate gaze, abnormal visual tracking, mixed tone, bruising, and splenomegaly on examination. Initial workup was notable for thrombocytopenia and positive cytomegalovirus (CMV) immunoglobulin G and immunoglobulin M antibodies. She initially presented to the infectious diseases CMV clinic, where she was noted to have severe malnutrition, prompting referral to the emergency department for hospital admission to optimize nutrition with nasogastric tube feeding and facilitate additional evaluation. An active CMV infection with viruria and viremia was confirmed, but elements of her presentation and workup including brain magnetic resonance imaging were not consistent with isolated CMV infection. To avoid premature diagnostic closure, a multidisciplinary workup was initiated and ultimately established her diagnosis.

Frailty is a common geriatric syndrome characterized by a decline in physical and cognitive abilities and an increased vulnerability to stressors such as illnesses and injuries. As the global population is aging, the prevalence of frailty is growing. Frail older adults are at substantial risk of developing mobility and self-care difficulties, hospitalization, and death. Frailty is also associated with a high symptom burden and psychosocial stress, including malnutrition, pain, fatigue, weakness, cognitive loss, depression, falls, and sleep disorders, among others. The role of palliative care is gaining attention in medical literature because frailty is associated with increased morbidity and mortality. While there are no specific guidelines yet for when palliative care should be consulted in older patients with frailty, it has been proposed that palliative care should be considered in frail patients with continued functional decline, increased healthcare utilization, and uncontrolled symptoms. Palliative care can aid in communication with patients and families, establishing goals of care and treatment preferences, improving pain and symptom control, addressing psychosocial and spiritual needs, advance care planning, caregiver needs, and end-of-life care. Once frailty is identified, a comprehensive evaluation of the patient\'s physical, psychosocial, and spiritual aspects of care is essential for establishing a patient-centered treatment plan. This paper aims to guide clinicians in providing patientcentered care for older adults with frailty in the outpatient setting. Through a comprehensive literature review, we describe the leading models of frailty, frailty screening tools used in the clinical setting, and the assessment and management of palliative care needs in frail patients. We also describe emerging models of care focusing on palliative care for older adults with frailty and discuss issues related to access to palliative care for this population.

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Shwachman-Diamond syndrome (SDS) is a genetic disorder caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. The syndrome is characterized by multiorgan dysfunction primarily involving the bone marrow and exocrine pancreas. Frequently overlooked is the hepatic dysfunction seen in early childhood which tends to improve by adulthood. Here, we report a child who initially presented with failure to thrive and elevated transaminases, and was ultimately diagnosed with SDS. A liver biopsy electron micrograph revealed hepatocytes crowded with numerous small mitochondria, resembling the hepatic architecture from patients with inborn errors of metabolism, including mitochondrial diseases. To our knowledge, this is the first report of the mitochondrial phenotype in an SDS patient. These findings are compelling given the recent cellular and molecular research studies which have identified SBDS as an essential regulator of mitochondrial function and have also implicated SBDS in the maintenance of mitochondrial DNA.

The aetiology of failure to thrive (FTT) in children is broad, of which some conditions are extremely rare. It is important to consider these rarer conditions, especially in the setting of other concerning signs/symptoms or when there is no improvement with conventional treatment. In this case report we highlight such a rare condition-chylomicron retention disease (CRD) as an aetiology of FTT. CRD often presents with non-specific symptoms, resulting in delayed diagnosis which is established by genetic workup and histology from small intestinal biopsies. Despite being rare, CRD needs to be considered as one of the differential diagnoses after ruling out the more common causes of FTT.

Tricho-hepato-enteric syndrome (THES), also known as syndromic diarrhea, is a rare genetic disorder that causes intractable diarrhea, hair anomalies, facial dysmorphism, and liver abnormalities. Herein, we report the case of an eight-month-old male who was referred to our hospital due to symptoms of diarrhea, vomiting, and insufficient weight gain. The child was born via cesarean section following an uncomplicated pregnancy, with no history of admission to the neonatal intensive care unit (NICU). Since birth, the patient has been experiencing diarrhea and inadequate weight gain, necessitating multiple hospital admissions. Upon evaluation, genetic testing confirmed the diagnosis of THES. The management strategy included a variety of nutritional interventions and supportive care measures. Currently, the patient is in the pediatric intensive care unit (PICU), receiving total parenteral nutrition (TPN) and continuous supportive care. This case underscores the complexity of diagnosing and managing THES, highlighting the need for comprehensive care and close monitoring of the patient\'s condition.