Journal of Rare Diseases and Orphan Drugs

A Large Recurrent Retroperitoneal Lymphangioma in a Previously Healthy Adolescent Male: A Case Report

2023-12-11T03:29:43+00:00

Lymphangiomas are uncommon benign lymphatic vessel tumors that can affect any area of the body served with the lymphatic system. Intra-abdominal lymphangiomas are considered rare, accounting for less than 5 percent of all lymphangioma cases. In this case report, we present a recurrent large retroperitoneal lymphangioma in a previously healthy 15-year-old boy. The patient presented to the Emergency Department with abdominal pain lasting for one week. The pain, described as diffuse, crampy, and non-radiating, gradually increased with time and was aggravated by movement. A large retroperitoneal fluid collection was found on the Computed Tomography (CT) scan. Subsequently, the patient underwent CT-guided drainage, at which 700ml of bloody fluid was extracted. After three months, the patient was readmitted to the hospital for a similar presentation of abdominal fullness and pain. Complete blood count analysis indicated an unremarkable profile, except for a left shift of 82.2% neutrophils and a white blood cell count of 11,300/mcl. A CT scan of the abdomen reported a large, thin-walled cystic lesion in the right hemi-abdomen with minimal thin internal septations, resulting in moderate right hydronephrosis/hydroureter.

A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature.

2023-08-14T22:49:59+00:00

Abstract: Case report A A 10-year-old female patient born from non-consanguineous healthy parents after a regular pregnancy developed, at the age of 3 months, diffuse hyperkeratotic, pruritic plaques on her face, forearms, wrists, perineal and sacral regions in a mosaic pattern distribution, growing progressively. Laboratory and instrumental investigations and a skin biopsy were performed, and both the patient and her parents underwent genetic testing. Histology described acanthosis and orthokeratotyc hyperkeratosis in a basket-weave pattern. Genetic investigations revealed, in our patient, a pathogenic paternal variant and the deletion of the corresponding maternal allele associated with the autosomal recessive form of Progressive Symmetrical Erythrokeratodermia (PSEK).

Discussion A review of the literature showed similarities and differences with this case. Diagnosis of autosomal recessive PSEK was made, uniquely associated in our patient with another genetic mutation of the KRT2 gene. Systemic retinoids and topical emollients were started, leading to a significant reduction of hyperkeratosis and a progressive resolution of the lesions. The most interesting feature was their further evolution, with the onset of sparing areas, suggestive of revertant mosaicism, although not confirmed by histology.

Conclusion This is the first case of Progressive Symmetrical Erythrokeratodermia associated with both the c.879G>A genomic variant in the KDSR gene and the p.Ala517Gly genetic variant of the KRT2 gene. A clinical picture was suggestive of revertant mosaicism observed in the patient, which, to date, has never been described in the literature. Systemic therapy with oral retinoids in association with topical keratolytics.

Neonatal Intraventricular Hemorrhage Presenting as Pyrexia of Newborn: A Case Report

2023-06-11T10:24:51+00:00

Abstract:

Background Temperature instability is a relatively common presenting symptom in a Neonatal Intensive Care Unit (NICU) with sepsis being one of the major etiologies that need to be ruled out. However, an important differential diagnosis is a central fever. Many cases of Intracranial Hemorrhage/Intraventricular Hemorrhage (ICH/IVH) present with temperature dysregulation with no other clear associated symptoms, and cranial imaging for early identification and treatment of ICH/IVH is crucial.

Case report A 3-day-old male born at 33 weeks and four days of gestation who was admitted to the neonatal critical care unit due to prematurity and respiratory distress was noted to be febrile during the fourth hospital day. The septic screen was negative, and the patient continued to spike fever while on broad-spectrum antimicrobial treatment. Due to an unexplained drop in his hematocrit, cranial ultrasound was done, and grade III IVH was identified. The patient continued to improve clinically, but the exact etiology of his IVH was not identified. His fever resolved without interventions, and his IVH continued to decrease in size. Serial cranial imaging was done in NICU, and no neurosurgical interventions were warranted. He was referred to neurosurgery and neurology and followed in the infant’s high-risk clinic.

Discussion Sepsis is the top of differentials when managing a newborn infant in NICU. However, we must always keep our minds open to other differentials, including central hyperthermia. Extreme prematurity is a major risk factor for ICH/IVH in the neonatal period; nonetheless, other risk factors are identified, and many cases of ICH/IVH had no identified causative factor or even risk factors.

Conclusion Identifying clinical presentation and risk factors associated with ICH and IVH in NICU patients is crucial for early diagnosis and offers appropriate management. A high index of suspicion is required to promptly diagnose ICH/IVH resulting in central fever and avoid unnecessary workup and treatment.

First Reported Lebanese Patient with Dihydrolipoamide Dehydrogenase Deficiency

2023-08-01T23:52:24+00:00

Abstract: Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive metabolic disorder characterized by an unpredictable pattern of presentation and a wide phenotypic spectrum. DLD is a common constituent of multiple mitochondrial complexes. It is also known as E3 (dihydrolipoamide: NAD+ oxidoreductase, EC 1.8.1.4). DLD, encoded by the DLD gene, is vital for catalysis. Thus, genetically induced deficiency of the enzyme, although very rare, is associated with failure to thrive, hypotonia, and metabolic acidosis [1,2].

In this report, we present the case of a 12-year-old Lebanese boy with a homozygous mutation in the DLD gene: c.685G>T p. Gly229Cys, who presented with liver failure, hyperammonemia, and encephalopathy. Genetic testing of his sibling revealed homozygosity for the same pathogenic variant.