Correlation between ultrasonographic and cytologic features of thyroid nodules: a single-center cross-sectional study.

A thyroid nodule is managed according to the clinical context, ultrasound (US) findings, and fine needle aspiration (FNA) results. Most thyroid nodules are benign; however, nodule classification is crucial to avoid unnecessary thyroid surgery. We conducted this study to compare the findings of fine-needle aspiration cytology (FNAC) expressed using the Bethesda system with the features of thyroid US classified using the EU-TIRADS classification to assess the risk of malignancy. A descriptive and analytical study involving 99 patients with thyroid nodules followed up in the Department of Endocrinology-Diabetology and Nutrition. Data were collected from medical records and analyzed using SPSS software V21. FNA was performed on 121 nodules using the BETHESDA system. These nodules were classified as malignant, suspicious for follicular neoplasm, and suspicious for malignancy in 5.8%, 5%, and 1.7% of cases, respectively. As for the EU-TIRADS 2017 classification, 59.5% of benign nodules were classified as EU-TIRADS III, whereas 66.7% of malignant nodules were classified as EU-TIRADS V and significantly related to malignant prediction (P = 0.000). The size of nodules was significantly correlated to the risk of malignancy (P = 0.013). Seventy-five percent of nodules with central vascularity were malignant (P = 0.012). Irregularity of nodule contours was significantly associated with the risk of malignancy, as 30% of nodules with irregular contours were Bethesda VI (P = 0.003). Hypoechogenicity was found in 77.8% of malignant nodules (P = 0.004). Additionally, only 9.2% of the nodules were taller than wide, of which 37.5% were malignant (P = 0.012). For a safe management strategy, US-guided FNAC should be performed on each suspicious thyroid nodule, given the correlation between EU-TIRADS classification features and the risk of malignancy.

Cutis verticis gyrata in a patient with acromegaly: an unusual case and review of literature.

Acromegaly is a rare systemic syndrome induced by the overproduction of growth hormone (GH) and insulin-like growth factor type one (IGF1). It is responsible for changes in the skeletal and soft tissue systems and it almost always occurs because of a pituitary adenoma. Amongst the skin complications related to acromegaly, cutis verticis gyrate (CVG) is occasionally found. It is a skin condition characterized by excessive growth of the skin of the scalp, resulting in furrows and folds. Only a few cases of this uncommon association have been reported in the literature. The present clinical case illustrates typical CVG associated with acromegaly. Imaging revealed a pituitary macroadenoma lesion and hormonal evaluation revealed elevated IGF1 and hypopituitarism. The patient underwent a transsphenoidal resection of the pituitary adenoma and the histopathological examination confirmed the diagnosis. The diagnosis of CVG is clinical, so radiologic assessments are generally not necessary. The management of acromegaly associated with CVG depends on controlling the serum levels of GH and IGF1. In some cases, specific injections or surgery can be used to minimize CVG.

Apoplexy of a giant clival ectopic prolactinoma: A very rare case report.

INTRODUCTION AND IMPORTANCE: Ectopic pituitary neuroendocrine tumor (EPNET) is a very rare entity, seldom with apoplexy evolution. Only three cases of intracranial ectropic pituitary neuroendocrine tumor apoplexy were reported in the literature. CASE PRESENTATION: We report the case of a 45-year-old woman with a history of amenorrhea, and headaches. Neuroimaging showed a very aggressive giant mass within the clivus with the invasion of the sphenoidal sinus and encasement of internal carotid arteries with an empty sella. Endocrinology work-up revealed an exceedingly high level of prolactin surprisingly without galactorrhea. Immunohistochemical analysis after an endonasal biopsy confirmed the diagnosis of prolactinoma. One month after Cabergoline initiation, an apoplexy of the ectopic pituitary neuroendocrine tumor occurred. Conservational management with a decrease in cabergoline dose was performed. DISCUSSION: This article highlights data from various cases reported in the literature in addition to our case to confirm the extreme rarity of apoplexy as a complication of EPNET. CONCLUSION: Pituitary apoplexy in ectopic pituitary neuroendocrine tumor is extremely rare. Therefore, in case of unusual localization of pituitary neuroendocrine tumor, a thorough follow-up is necessary to detect complications and ensure early management.

Biliary Tract Disorders and Associated Acute Complications in Patients With Acromegaly: A Single-Center Study.

Background: Biliary complications are frequent in patients with acromegaly. These complications may be secondary either to acromegaly or to somatostatin analogs (SAs). We aimed in this paper to assess the prevalence of biliary complications in patients with acromegaly at diagnosis and after treatment with SAs. Methods: We conducted an analytical and descriptive retrospective study of 26 patients followed up for acromegaly over 7 years. Biliary complications were screened at diagnosis and follow-up by abdominal ultrasound, biliary magnetic resonance imaging (MRI), and endoscopic ultrasonography (EUS). Data were analyzed using SPSS 21. Results: The mean age of the patients was 49.6 ± 14 years, with a female predominance (53.8%). The evaluation of biliary complications showed vesicular biliary tract lithiasis and/or sludge in seven patients (29%), including two patients at the time of diagnosis of acromegaly and five patients after an average medical treatment duration of 3 years. Six female patients (24%) had dilation of the bile ducts without the presence of obstruction on biliary MRI and EUS and lithiasis/sludge of the common bile duct, tumor or external compression have been excluded. This condition was discovered incidentally at the diagnosis in five patients and during the follow-up in one patient. The preoperative insulin-like growth factor 1 (IGF-1) levels, disease duration, and female sex were significantly correlated with biliary tract dilation occurrence. Dyslipidemia, the preoperative IGF-1 level, and lanreotide treatment duration were significantly correlated with the occurrence of biliary lithiasis (P < 0.05). Conclusion: Biliary stones are a frequent biliary adverse effect in patients with acromegaly undergoing SAs treatment. However, primary bile duct dilation has never been reported in acromegaly to the best of our knowledge. This condition could be considered as a complication or a feature of the disease.

Balancing efficacy and adverse reactions using everolimus in a patient with metastatic malignant insulinoma: Case report.

INTRODUCTION: Malignant insulinoma is a rare neuroendocrine tumor responsible for excessive insulin secretion and life-threatening hypoglycemia episodes. Computed tomography (CT) of the abdomen can identify a pancreatic tumor corresponding to insulinoma. Loco-regional metastases define the metastatic cases. The first-line therapeutic approach is surgery, while other medical treatments like diazoxide and everolimus play also a role. These treatments have shown efficacy in regulating blood glucose and, to some extent, controlling tumor progression. CASE PRESENTATION: We present the case of a 48-year-old female who was admitted for severe hypoglycemia episodes. She presented neuroglycopenic symptoms without any other clinical features. High levels of C-peptide and insulin during severe hypoglycemia confirmed the presence of endogenous hyperinsulinism. The CT scan of the abdomen confirmed the existence of an insulinoma along with several hepatic metastases. Surgery was proposed as a first-line approach. However, due to the persistent occurrence of severe hypoglycemia episodes, other treatment options were necessary such as diazoxide and everolimus. Diazoxide caused a significant improvement in the patient's blood glucose levels. Nonetheless, glycemic control was unsustainable, obligating the switch to everolimus, which showed better control of blood glucose levels with challenging management due to the appearance of grade 3 stomatitis as a side effect. The patient died 1 year after the diagnosis due to tumor progression. CONCLUSION: Balancing the benefits of enhanced glycemic control with the difficulties posed by side effect management of everolimus underscores the need to carefully consider both efficacy and potential adverse events.

Coronavirus as a trigger of lymphocytic hypophysitis in an adolescent girl: An exceptional case report.

INTRODUCTION AND IMPORTANCE: Lymphocytic hypophysitis is an underestimated disease and the pathogenesis is still poorly elucidated. Post-coronavirus lymphocytic hypophysitis is a new emerging entity. CASE PRESENTATION: A 16-year-old previously healthy girl presented with pituitary tumor syndrome. She suffered from frontal headaches, polyuria-polydipsic syndrome, and impaired visual acuity. She was diagnosed with COVID-19 infection three weeks before. Contrast-enhanced magnetic resonance imaging (MRI) revealed pituitary enlargement with intense homogenous enhancement postgadolinium on T1 weighted images. The diagnosis of lymphocytic hypophysitis was made after ruling out other differential diagnosis. She was started on methylprednisolone. Improvement of clinical symptoms was seen on day 5 with a significant decrease in headache intensity. CLINICAL DISCUSSION: The article summarizes data from cases reported in the literature and our case to highlight coronavirus as a new trigger of lymphocytic hypophysitis. Despite the rarity of this complication, patients with a suspicion of hypophysitis after a recent COVID-19 infection should be carefully evaluated. CONCLUSION: COVID-19 infection can cause lymphocytic hypophysitis. However, it seems premature to conclude on the causal link between COVID-19 and endocrine diseases. Further studies on larger samples are needed to comprehend the pathogenesis of autoimmune endocrinopathies after COVID-19 infection.

A pituitary mass is not always an adenoma: A rare case of pituitary tuberculoma in an adolescent.

INTRODUCTION AND IMPORTANCE: Tuberculosis of the central nervous system is unusual and accounts for 1 % of all cases of tuberculosis in the world. The pituitary location is even scarcer. CASE PRESENTATION: A 14-year-old girl presented with polyuria-polydipsia syndrome and menstrual irregularity. MRI showed an intrasellar lesion of the pituitary gland. She underwent transsphenoidal surgery for histopathological diagnosis and removal of the lesion. Histological findings were consistent with a tuberculoma. She was put on anti-tuberculosis drugs and is being followed up. CLINICAL DISCUSSION: In endemic areas, pituitary tuberculosis should be considered in the differential diagnosis of pituitary tumors. The histological examination will guide the diagnosis. Sometimes, other complementary examinations such as the tuberculin skin test can be of great help when the histology is not conclusive. Medical treatment can be curative, however, surgery can be necessary for decompression. CONCLUSION: In addition to being the first case of histologically proven primary pituitary tuberculosis in a child reported in Morocco, the present case is unique in the way that the extensive radiological examinations did not reveal any evidence of other systemic or pulmonary tuberculosis.

Functional retroperitoneal paraganglioma invading the inferior vena cava in the elderly, a case report and literature review.

INTRODUCTION AND IMPORTANCE: Phaeochromocytomas and paragangliomas are rare neuroendocrine neoplasms that grow outside the adrenal gland and arise from the primitive neural crest cells. The retroperitoneal location is extremely rare with an incidence of 2-8 per million. CASE PRESENTATION: Here we report a case of an 80 years old man presenting with abdominal pain and vomiting associated with hypertensive peaks and weight loss. CT scan showed a retroperitoneal para-aortic tumor invading the inferior vena cava, with significantly elevated urinary catecholamine levels. Histopathological and immunohistochemistry examinations confirmed the diagnosis of paraganglioma. A medical preparation by alpha-blockers was performed. Complete resection of the tumor with the reconstruction of the vena cava was achieved without postoperative complications. After surgery, blood pressure and HbA1c were on the targets and the urinary catecholamine levels were normal. CLINICAL DISCUSSION: The diagnosis of paragangliomas is suspected by clinical symptoms in the case of functional paragangliomas and the confirmation is biological by the plasmatic or urinary catecholamines. Non-functional paragangliomas often represent a diagnostic challenge. In our case, the large size, the location of the tumor, and the invasion of adjacent structures represented a surgical challenge to perform a complete resection. CONCLUSION: In the elderly, this pathology is quite uncommon. Retroperitoneal paraganglioma is a rare location of this type of tumor. Endocrinologists, surgeons, and anesthesiologists should work together to ensure an appropriate diagnosis and treatment of paraganglioma. The gold standard treatment is the complete resection after a medical preparation.

Non-functioning pituitary carcinoma: Case report and literature review.

INTRODUCTION AND IMPORTANCE: Non-functional pituitary carcinoma is a rare neuroendocrine tumor. It is characterized by the presence of cerebrospinal or distant metastasis of an adenohypophysis tumor without any hypersecretion. Only a few cases of non-functional pituitary carcinomas have been reported in the literature. CASE PRESENTATION: In this paper, we report the case of a 48-year-old female patient who presented with spinal pain and a mass facing the second thoracic vertebrae. Spinal magnetic resonance imaging (MRI) revealed the presence of pituitary and bilateral adrenal incidentalomas. The patient was operated and the histopathological examination of the specimen revealed a non-functional pituitary carcinoma variety "Null Cell". DISCUSSION AND CONCLUSION: There are no clinical, biological, or radiological characteristics that reliably differentiate between non-functional pituitary adenoma and non-functional pituitary carcinoma. Management remains a challenge for clinicians and neurosurgeons. A combination of surgery, chemotherapy, and radiotherapy seems necessary to achieve tumor control.

Prevalence and Specific Manifestations of Non-alcoholic Fatty Liver Disease (NAFLD) and Diabetes Mellitus Type 2 Association in a Moroccan Population: A Cross-sectional Study.

OBJECTIVE: Non-alcoholic fatty liver disease (NAFLD) is recognized as a common cause of chronic liver disease worldwide. Its association with type 2 diabetes mellitus (T2DM) is known to increase the risk of degenerative complications of diabetes and the likelihood of developing severe hepatic injuries. The objective of this study was to assess the prevalence of NAFLD and to describe the characteristics of its association with T2DM. METHODS: This was a descriptive analytical study, involving patients with T2DM with no history of alcohol consumption, viral hepatitis, hepatotoxic medications, or other chronic liver diseases. The patients underwent an investigation of NAFLD including abdominal ultrasound, non-invasive biomarkers of liver fibrosis, elastography and ultrasound-guided liver biopsy. RESULTS: We collected data from 180 patients with a mean age of 59.3 ± 10.9 years with strong female predominance. The mean duration of diabetes progression was 9.2 ± 7.3 years. Hepatic sonography showed signs of NAFLD in 45.6% of cases. Non-invasive hepatic biomarkers indicated significant fibrosis in 18.3% of cases. Overall, 21% of patients underwent an elastography evaluation, revealing severe fibrosis or cirrhosis in 15.4% of patients. The diagnosis of NASH (Non-alcoholic steatohepatitis) was confirmed histologically in 3 patients. The overall prevalence of NAFLD was 45.6%. Patients with NAFLD had a statistically significant incidence of obesity, metabolic syndrome, hypertension, dyslipidemia, macrovascular complications, and hypertriglyceridemia (p < 0.05). CONCLUSIONS: The combination of NAFLD and T2DM is often found in patients with obesity or metabolic syndrome. The presence of NAFLD can be responsible for increased morbidity and important cardiovascular risks in patients with T2DM.

An extremely rare case of calcinosis cutis in human Cushing's disease.

Summary: Cushing's disease or pituitary adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome is considered a rare condition. It is caused by hypersecretion of the ACTH by a pituitary adenoma that ultimately induces endogenous hypercortisolism by stimulating the adrenal glands. It is responsible for significant morbidity and mortality. The clinical signs and symptoms of hypercortisolism are usually common and non-specific including obesity, moon face, hypertension, hirsutism and facial plethora. The association between Cushing's disease and calcinosis cutis which is defined as dystrophic calcium deposition in the skin and subcutaneous tissues is extremely rare. To the best of our knowledge, it has never been described previously in humans, probably like a symptom or complication of chronic and severe hypercortisolism. In this paper, we report a case of a 30-year-old female diagnosed with Cushing's disease and presented bilateral leg's calcinosis cutis complicated with ulceration. The evolution was favorable and the complete cicatrization was obtained 12 months following the suppression of systemic glucocorticoid excess. Learning points: Calcinosis cutis is common in autoimmune connective diseases. However, to our knowledge, it has never been reported in humans with Cushing's disease. Given the rarity of this association, the diagnostic approach to calcinosis cutis must exclude the other etiologies. Calcinosis cutis is challenging to treat with no gold standard therapy. In our case, the use of the combination of colchicine and bisphosphonates does not significantly improve the patient's outcomes. In fact, we suppose that without treating the endogenous hypercortisolism, the calcinosis cutis will not resolve.

A rare case report about a congenital adrenal hyperplasia by 21-hydroxylase lock in its pure virilizing form discovered in adolescence.

Introduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease. The diagnosis of the classic virilizing form must be made at birth. Case presentation: We report the case of a 16-year-old female patient, who consulted for primary amenorrhea and absence of breast development, in whom the clinical examination found a male morphotype, signs of virilization with a peniform hypertrophy of the clitoris. Pelvic ultrasound confirmed the presence of the uterus and ovaries. A syacthen test on 17 hydroxy-progesterone was performed confirming the diagnosis of congenital adrenal hyperplasia by partial 21-hydroxylase deficiency. The treatment was based on hydrocortisone and spironolactone with a decrease in hairiness and a breast development after 3 months. Discussion: The principal aim of the management at adolescent age is to block hyperandrogenism and to prevent or manage the complications of classic form and its treatment. The treatment must be completed by a feminization surgery which constitutes a great challenge given the necessity of participation of a gynecologist and a pediatric surgeon experienced in the surgery of anomalies of sexual development. Conclusion: This rare case of anomaly of sexual development discovered at an adolescent age with all the obstacles and difficulties of its management allows to put the point on the necessity of a good clinical examination at birth and the early management of any anomaly of sexual development.

Assessing recovery of adrenal function in glucocorticoid-treated patients: Our strategy for screening and management.

Background: Long-term glucocorticoid (GC) use is the most frequent cause of adrenal insufficiency through suppression of the hypothalamic-pituitary-adrenal axis. There are no guidelines for predicting adrenal insufficiency (AI) and minimizing its risk. Methods: This is a prospective observational study carried out in the Endocrinology-Diabetology and Nutrition department between 2014 and 2021. All patients had received GC therapy for longer than 3 weeks before switching to hydrocortisone substitution, for various indications. These patients were admitted to our department for stimulation tests. We assessed the prevalence of AI, predicting factors, screening and management. Results: In our study the GC-induced AI was found in 49% of patients. We found a strong correlation between the basal morning serum cortisol, body mass index and the peak cortisol level after stimulation tests, while no correlation was found between adrenal function and age, sex, indication of GC therapy, duration of corticosteroid therapy, cumulative dose and daily dose. Patients with GC induced AI took a mean of 12 ± 12,18 months to recover. Adrenal function recovery rate was higher in patients tested by short Synacthen than in those tested by Insulin Hypoglycemia. Conclusions: We demonstrated the positive correlation between serum cortisol peak levels after stimulation and body mass index. The study supports that basal cortisol level, the duration of corticoid cessation and the type of stimulation test can predict the response of cortisol to stimulation tests.

Insular thyroid carcinoma in a young Moroccan man: Case report and review of the literature.

Introduction: Insular thyroid carcinoma (ITC) was defined as a rare malignant thyroid cancer standing in an intermediate position between the well-differentiated (papillary and follicular) and the anaplastic thyroid carcinomas. The incidence was estimated around <1% and 10% worldwide. Despite its rarity, it remains the main cause of death from non-anaplastic follicular cell-derived thyroid cancers. Case presentation: A 27-year-old single male admitted for a history of a thyroid nodule and intrathoracic extension; with local mass effect, deviating the brachiocephalic trunk to the right. He underwent a total thyroidectomy. Histopathological examination showed a poorly differentiated insular thyroid carcinoma. Radioactive iodine-131 therapy was administred at a dose of 100 mCi, and the patient was maintained on TSH-suppressive therapy. Ultrasensitive Thyroglobulin measurement after thyroxine withdrawal, taken 2 years after radioactive iodine treatment was undetectable as well as thyroid antithyroglobulin antibodies. Conclusion: Our clinical case would enrich the global registry of insular thyroid carcinomas' cases. The main challenge is early detection, aggressive intervention, and close follow-up of affected patients. The advancement in ultra-deep sequencing technologies, will contribute in the development of novel targeted therapies aiming to reduce morbidity and mortality and improve the outcomes in PDTC patients as well.

Primary adrenal mature teratoma: A rare case report and review of literature.

Introduction: Teratoma is a germ cell tumor, deriving from totipotent cells. Teratomas usually occur in gonads and are rarely extra-gonadal. The adrenal location is exceptional. Only few cases of primary adrenal teratomas have been reported in literature, mainly in young patients. Case report: We report the case of a 56-year-old female patient who presented with pyrosis, dyspepsia and abdominal pain that was evolving for 5 months. The abdominal computed tomography revealed a voluminous mass of the right adrenal gland and the hormonal evaluation was normal. The patient underwent an open transperitoneal adrenalectomy and the histopathological examination of the specimen confirmed the diagnosis of mature teratoma. Discussion: Adrenal teratomas are commonly asymptomatic and their diagnosis depends mostly on radiologic findings. Malignant transformation is very rare. Surgical excision is the mainstay of treatment with a good prognosis. Conclusion: Open surgery should always be considered in large and adhering teratoma tumors of the adrenal gland. Some pathologic features and tumorigenesis of adrenal teratomas are not entirely elucidated, thus the importance of larger studies in order to comprehend this pathological entity.

Giant symptomatic adrenal myelolipoma: A case report.

INTRODUCTION: Adrenal myelolipomas are rare non-functioning benign tumors composed of adipose and hematopoietic tissues. Most AMLs are discovered incidentally and represent the second most common adrenal incidentaloma. CASE PRESENTATION: A 58-years-old female patient, obese with a history of diabetes and blood hypertension presented with complaints of pain in the left flank. Abdominopelvic computed tomography showed a giant well-defined mass of the left adrenal gland with fat density suggesting adrenal myelolipoma. The patient underwent open left adrenalectomy. The pathological study confirmed the diagnosis of adrenal myelolipoma. DISCUSSION: Most AMLs are asymptomatic, remain stable in size, or grow slowly. Mass effect symptoms and spontaneous rupture are observed more in larger AMLs. The most common symptoms observed are abdominal discomfort/pain, hypochondrial pain, and flank pain. Most of the AMLs are discovered incidentally and the radiological features are accurate in diagnosing AML in up to 90% of the cases, CT is more sensitive for detection than other imaging modalities. The open surgery approach is the standard treatment of choice for giant AML (>10cm) while the minimally invasive approach has been used in only a few cases. CONCLUSION: The therapeutic management is discussed on a case-by-case basis. Surgical treatment is indicated for larger, symptomatic, or rapidly growing AMLs. Meanwhile smaller and asymptomatic AMLs are managed conservatively.

Failure to Thrive Revealing a Pilomyxoid Astrocytoma: An Uncommon Case Report with Literature Review.

Pilomyxoid astrocytoma (PMA) is a freshly described figure of low-grade neoplasms encountered in early childhood. Nevertheless, its precise classification by the World Health Organization (WHO) is still debatable. Making an exact diagnosis relies on histological and immunohistochemical pathognomonic features with specific radiological findings. PMA behaves aggressively with a shorter progression-free survival, and its management is unfortunately still arguable. We describe a rare case of PMA involving the suprasellar region who displays symptoms consistent with diencephalic syndrome. The diagnosis was made by magnetic resonance imaging (MRI) focused on the hypothalamic-pituitary axis, and the patient underwent a subtotal tumor resection combined with chemotherapy. Diagnosis of brain tumors should be kept in mind in young children with generalized and severe unexplained loss of subcutaneous fat with failure to thrive after ruling out classical causes.

Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.

Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. To our knowledge, this association has been previously reported in 3 patients in the literature.

Short stature Revealing a Pycnodysostosis: A Case Report.

INTRODUCTION: Pycnodysostosis is a rare genetic disease characterized by osteosclerosis and bone fragility. The clinical aspects are varied including short stature, acro-osteolysis of distal phalanges, and dysplasia of the clavicles. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, a beaked nose, obtuse mandibular angle, and both maxilla and mandible are hypoplastic. Dental abnormalities are common. We report a case with the typical clinical and radiological characteristics of the Pycnodysostosis associated with a conductive hearing loss, an association rarely reported. CASE PRESENTATION: A 12-year-female was admitted in our institute for short stature with a dysmorphic facies for evaluation. The patient reported a history of multiple fractures of the long bones after a trivial fall. On physical examination, she had the following features: short stature, limited mouth opening, short hands and feet with dysplastic nails; frontal and occipital bossing; and hypoplasia of the maxilla and mandible. Examination of the mouth: grooved palate, caries of the teeth, impacted and malposed teeth, persistent deciduous teeth and missing teeth. Laboratory investigations were normal. The radiographic examination showed a generalized increase in the bone density, slight condensation of the skull base and a very open mandibular angle. X-rays showed tapered phalanges with acro-osteolysis of the distal phalanges. A symptomatic treatment was proposed based on fracture prevention, oral hygiene, frequent dental visits and psychiatric support. CONCLUSION: The clinical and radiological features are the bases for the diagnosis of this disease. It is important to make the diagnosis as early as possible in order to plan the treatment and to provide a better life quality to the patients.

Achondroplasia: Current Options and Future Perspective.

Achondroplasia is a human bone genetic disorder of the growth plate and is the most common form of inherited disproportionate short stature. It is inherited as an autosomal dominant disease with essentially complete penetrance. Of these most have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) which is a negative regulator of bone growth. The clinical and radiological features of achondroplasia can easily be identified; they include disproportionate short stature with rhizomelic shortening, macrocephaly with frontal bossing, midface hypoplasia, lumbar hyperlordosis, and a trident hand configuration. The majority of achondroplasts have a normal intelligence, but many social and medical complications may compromise a full and productive life. Some of them have serious health consequences related to hydrocephalus, craniocervical junction compression, or upper-airway obstruction. In this article, we discuss a number of treatments from the surgical limb lengthening approach and the Recombinant Growth Hormone (rhGH) treatment, to future treatments, which include the Natriuretic Peptide C-type (CNP). The discussion is a comparative study of the complications and drawbacks of various experiments using numerous strategies.