Danai Chourmouzi

Background/Objectives: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neurological, renal, or auditory defects and seizures. However, it has never been associated with hypoglycemia. The present case report describes a 5-year and 6/12-month-old boy with HPII, with an episode of severe hypoglycemia and Pituitary Stalk Interruption Syndrome (PSIS) with isolated growth hormone (GH) deficiency (GHD). Results: The boy was presented to the Department of Pediatric Endocrinology for routine thyroid function assessment due to hypothyroidism. He was diagnosed with HPII at the age of 2 years old during an investigation for seizure episodes. Clinically, the boy exhibited attention deficit hyperactivity disorder (ADHD) and a reduction in growth velocity (1.6 cm/year). Hematological and biochemical analyses were within the reference range. Hormone profiling revealed lower-than-expected insulin-like growth factor-1 (IGF-1) concentrations, prompting a GH stimulation test, which, in turn, revealed GHD. Brain magnetic resonance imaging (MRI) showed features consistent with PSIS. Noteworthy is the occurrence of severe hypoglycemia during an episode of gastroenteritis, leading to hospitalization, eventually attributed to GHD. Following the exogenous administration of recombinant human GH, the boy exhibited increased growth velocity, with no adverse events over the follow-up period. Conclusions: Hyperprolinemia is a rare condition; in this context, the occurrence of severe hypoglycemia accompanied by a low growth velocity poses a challenge for the clinical pediatrician. Furthermore, the coexistence of hyperprolinemia and PSIS has never been reported in the literature thus far.

Background A positive family history is considered the strongest recognizable risk factor for developing inflammatory bowel diseases (IBD) and is present in 8–12% of cases. Aims To determine the prevalence of familial IBD and also to compare the clinical characteristics and extraintestinal manifestations between familial and sporadic cases. Methods We conducted a cross-sectional study based on retrospectively-prospectively collected data from a cohort of IBD patients followed in daily clinical practice. Patients with biopsy-confirmed familial and sporadic IBD aged 16–90 years old were included in the study. A comprehensive questionnaire was used to collect data on each site visit. Logistic regression analysis and chi-squared test were used. Results In total, 265 patients with IBD were included. 12.1% had a first-degree relative with IBD present (16.4% in Crohn’s disease and 5.7% in the ulcerative colitis group, P < 0.05). Familial IBD patients were mainly females, were more frequently diagnosed with Crohn’s disease and had a higher risk for hospitalization due to an IBD flare (P < 0.05), to undergo a surgical procedure (P < 0.001), to require treatment with biologic agents (P < 0.05), to develop perianal disease (P < 0.05), and extraintestinal manifestations (P < 0.05), mainly spine joint complications, erythema nodosum, and anterior uveitis. Conclusion In this study, a positive family history of IBD was present in 16.4% of Crohn’s disease and 5.7% of ulcerative colitis patients and was associated with a greater risk for hospitalization, surgical procedures, occurrence of perianal disease, need for treatment with biologic agents, and development of extraintestinal manifestations.

Cervical myelopathy (CM) is a clinical diagnosis that may be associated with hyperintense areas on T2-weighted magnetic resonance imaging (MRI) scan. The use of contrast enhancement in such areas to differentiate between neoplastic and degenerative disease has rarely been described. We present a 41-year-old female with a 5-month course of progressive CM. The cervical MRI revealed spinal cord swelling, stenosis, and a hyperintense signal at the C5-C6 and C5-C7 levels. Both the neurologic and radiologic examinations were consistent with an intramedullary cervical cord tumor. To decompress the spinal canal, an anterior cervical discectomy and fusion was performed from C5 to C7 level. This resulted in immediate and significant improvement of the myelopathy. Postoperatively, over 1.5 years, the hyperintense, enhancing intramedullary lesion gradually regressed on multiple postoperative MRI scans. Spinal cord edema is occasionally seen on MR studies of the cervical spine in patients with degenerative CM. Contrast-enhanced MR studies may help differentiate hyperintense cord signals due to edema vs. atypical intramedullary tumors. Routine successive postoperative MRI evaluations are crucial to confirm the diagnosis of degenerative vs. neoplastic disease.

Malignant transformation of epidermoid cyst into squamous cell carcinoma (SCC) is rare. We report the case of a 39-year-old woman presenting with dizziness and cerebellar ataxia. MR scan revealed a mass in the left cerebropontine angle compressing the brainstem and the cerebellum, with two main components, a cystic and a solid one. The cystic component displayed imaging findings consistent with an epidermoid cyst. The solid component showed dense calcifications, low signal intensity on T1W, T2W and DW images and peripheral nodular enhancement. MR spectroscopy detected high lipid/lactate peaks and choline/creatine ratio. Imaging findings raised suspicion for malignant transformation, which was confirmed by histopathologic examination revealing an SCC. MR imaging with intravenous administration of gadolinium, DW images and MR spectroscopy can play a critical role in the diagnosis of malignant transformation of an epidermoid cyst.