Prader-Willi syndrome (PWS) is an exceedingly rare congenital syndrome of chromosome 15 that presents multiple comorbidities in said individuals. The associated quality of life for those with the disease is often severely diminished; more tragically, mortality associated with the disease is also increased. Pulmonary embolism (PE) is highly associated with mortality and has been shown to be more prevalent in patients with PWS. This case report details a patient with PWS who survived an acute saddle PE and looks to bring more clinical knowledge that can be applied when dealing with individuals with PWS.

Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000-1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the \"molar tooth sign,\" hypotonia, and delayed neurodevelopment.
We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the \"molar tooth sign,\" where the pathognomonic sign of Joubert syndrome.
Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient\'s quality of life with a multidisciplinary management and genetic counseling.
El síndrome de Joubert es una rara condición genética con una prevalencia de 1:80,000 a 1:100,000. En la mayoría de los casos se presenta con un patrón de herencia autosómica recesiva, aunque se han reporatdo casos ligados al cromosoma X y autosómicos dominantes. La característica distintiva de este síndrome es la malformación a nivel cerebral y del cerebelo conocido como el “signo del molar”, hipotonía y retraso en el neurodesarrollo.
Se describe el caso de un recién nacido con taquipnea transitoria del recién nacido; sin embargo, durante su estancia manifestó otros signos que no correspondían con el diagnóstico de ingreso, como bradicardia, apneas, hipotonía y alteración en la mecánica de la deglución. Para descartar etiologías de origen central, se realizó una resonancia magnética cerebral en la que se detectó el “signo del molar”, patognomónico del síndrome de Joubert.
Las enfermedades genéticas raras pueden manifestarse desde el periodo neonatal con signos muy inespecíficos. El diagnóstico precoz del Síndrome de Joubert permite un mejor seguimiento pediátrico que impacta en su pronóstico y en la posibilidad de mejorar la calidad de vida del paciente con un manejo multidisciplinario, así como brindar asesoramiento genético.

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Flexible bronchoscopes are increasingly being used in diagnostic and therapeutic medicine and have obviated the need for and risks associated with general anesthesia. Here the authors present the case of a 2-y-old girl who was diagnosed with isolated pulmonary Langerhans cell histiocytosis by histopathology; a lung biopsy sample was obtained using a cryoprobe via a flexible bronchoscope. The girl was brought in with complaints of loss of weight, appetite loss, and rapid breathing for the past 2 mo. Examination revealed hypoxia, tachypnea, clubbing with failure to thrive, and bilateral crepitations on auscultation. Imaging studies showed ground-glass opacities with multiple cystic lesions in both lungs. A preliminary diagnosis of LCH was made, and transbronchial cryobiopsy was done via a flexible bronchoscope. Histopathology confirmed the diagnosis with Cluster of differentiation 1a (CD1a) staining. A flexible bronchoscope can be a useful tool for obtaining lung biopsy samples using a cryoprobe in children.

Methemoglobinemia is a common complication of dapsone poisoning. Its´ treatment usually relies on methylene blue infusion. The aim of this study was to report a case of an acute dapsone poisoning with methemoglobinemia treated only with ascorbic acid and activated charcoal. A 16-year-old female voluntary ingested 3 grams of dapsone in an attempt of suicide and presented with desaturation and tachypnea. Lab findings were compatible with methemoglobinemia. After two days of treatment with ascorbic acid and activated charcoal, we observed the disappearance of desaturation and tachypnea. Methemoglobinemia can be treated with ascorbic acid and activated charcoal in limited resource settings.

Ellis-Van Creveld syndrome (EVCS) is an abnormal genetic condition of the EVC2 gene located on chromosome 4. In this case, the person presents with bone growth abnormalities, thus having a short stature, short arms and legs (more commonly the forearm and lower leg), a narrow chest with short ribs, polydactyly, spoon-shaped or malformed nails, abnormalities in dentition, and congenital heart defects like atrial septal defects and ventricular septal defects. In this case report, we present a 4.5-year-old female child who presented with cough and cyanosis as signs and tachypnea, tachycardia, facial oedema, cold, and clubbing as symptoms with polydactyly and short stature focuses on a rare presentation of a syndromic disease known as EVCS.

The pediatric population accounts for a small portion of those with severe disease related to COVID-19. There are few published reports of hypercoagulable states in children with COVID-19. We describe an 11-year-old male with nephrotic syndrome who required inpatient treatment for COVID-19 pneumonia eight weeks prior. He returned to the emergency department with vomiting, tachypnea and was found to have a pulmonary embolism. In this case report, we discuss the risk factors for, presentation and evaluation of hypercoagulable state and its relation to COVID-19 in a pediatric patient.

BACKGROUND: Paroxysmal autonomic instability with dystonia (PAID) is an underdiagnosed syndrome that describes a collection of symptoms following diverse cerebral insults, such as traumatic brain injury, hydrocephalus, hemorrhagic stroke, or brain anoxia. It is manifested by systemic high blood pressure, hyperthermia, tachycardia, tachypnea, diaphoresis, intermittent agitation, and certain forms of dystonia.
UNASSIGNED: A semi-comatose 46-year-old man was transferred from the regional rehabilitation hospital with various complaints involving fluctuating vital signs, including uncontrolled hyperthermia, hypertension, tachycardia, and tachypnea, and dystonia in all extremities. The patient underwent brain surgery for astrocytoma in 1996. The patient also had a history of first ischemic stroke on the basal ganglia in 2008 and a second one in the same area in 2017.
METHODS: The laboratory, electrocardiography, and radiologic findings were normal. Brain imaging indicated an old infarction on the basal ganglia with hydrocephalus. Tractography using diffusion tensor imaging showed discontinuity of multiple tracts, and electrophysiologic tests, such as evoked potentials, displayed an absent response. Based on the dysautonomic symptoms and brain evaluations, the physiatrist diagnosed the patient with PAID.
METHODS: Bromocriptine, propranolol, and clonazepam were administered sequentially, but autonomic instability persisted. Then, intravenous opioid was administered, and fluctuations in body temperature, heart rate, and respiratory rate, as well as decerebrate-type dystonia were improved. However, simultaneously, drug-induced severe hypotension developed (systolic blood pressure, 57 mm Hg). Subsequently, a transdermal opioid (fentanyl) patch for PAID was applied once every 3 days.
RESULTS: Ultimately, all vital signs and dystonia were managed without further complications, and the patient was discharged.
CONCLUSIONS: A patient diagnosed with PAID following multiple cerebral insults was observed, whose condition was controlled by application of opioid patch rather than by intravenous or oral routes. A transdermal opioid patch, such as fentanyl patch, can thus be effective in the treatment of patients with PAID following multiple cerebral insults.

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Joubert syndrome is a rare neurological manifestation usually present in late infancy or early childhood with characteristic episodes of abnormal breathing pattern along with the neurological and other systemic involvement.We report a case of confirmed Joubert syndrome present in the immediate neonatal period with isolated spells of oxygen desaturations not accompanied by the classically described breathing pattern and absent neurological symptoms causing delay in the diagnosis. Isolated oxygen desaturation episodes could be a presenting manifestation of Joubert syndrome in a neonatal period.