Guerrerocarver1647

Chronic sinusitis and its complications are common in patients with cystic fibrosis. Mucoceles are one of these complications and can have life-threatening consequences if left untreated.

We present the case of a giant ethmoid mucocele leading to proptosis and hypertelorism in a 5-year-old child with cystic fibrosis.

Chronic sinusitis and its complications are common in patients with CF. Mucoceles are a rare complication of sinusitis that can be treated surgically. As seen in this case if left untreated mucoceles can lead to orbital pathologies such as proptosis, hypertelorism. To the best of our knowledge, we report the first case report of giant ethmoidal mucocele leading to proptosis and hypertelorism in a patient with cystic fibrosis.

Chronic sinusitis and its complications are common in patients with CF. Mucoceles are a rare complication of sinusitis that can be treated surgically. As seen in this case if left untreated mucoceles can lead to orbital pathologies such as proptosis, hypertelorism. To the best of our knowledge, we report the first case report of giant ethmoidal mucocele leading to proptosis and hypertelorism in a patient with cystic fibrosis.

While the clinical benefits of terlipressin (TP) have been reported in adults and children with refractory hypotension, data in neonates are limited.

Herein, we report a case of off-label rescue TP therapy in a neonate with septic shock and persistent hypotension. selleck chemical The patient`s blood pressure was normalized, and tissue perfusion improved without serious adverse reactions. However, genetic testing revealed mitochondrial gene defects in the patient, and the parents subsequently elected to stop treatment after 25 doses of TP (20 μg/kg/min every 4 h for 100 h).

While TP treatment appeared to help control hypotension and may prolong the survival time, there are no conclusive data regarding the safety and efficacy of TP in neonates.

While TP treatment appeared to help control hypotension and may prolong the survival time, there are no conclusive data regarding the safety and efficacy of TP in neonates.

Herein we present our experience with abatacept in a patient diagnosed with primary focal segmental glomerulosclerosis (FSGS) and resistant to steroid and other immunosuppressives.

A 17-year-old girl was diagnosed with idiopathic nephrotic syndrome (NS) at the age of 8 years. Kidney biopsy was performed when she did not respond to 6-weeks of steroid (2mg/kg) therapy followed by three doses of pulse methylprednisolone (PMP) and considered as steroid resistant NS. The biopsy revealed focal segmental glomerulosclerosis (FSGS) and cyclophosphamide was added to the steroid treatment but the patient had no response. The genetic analysis revealed G34G/A318A compound homozygous synonym aminoacid variation in NPHS2 gene, thus all immunosuppressive regimes were stopped and she was put on supportive treatment. Throughout this period, she had nephrotic range of proteinuria, however serum albumin levels were > 3g/dl. At the end of two years, the patient had NS with severe edema and hypoalbuminemia. When the genetic immunosuppressive therapies.

Glutaric Aciduria Type 3 (GA-3) is a rare metabolic disease which is inherited autosomal recessively and characterized by isolated glutaric acid excretion. To date, a limited number of cases have been reported in the literature. We present two patients with GA3 who were diagnosed with the isolated increased level of glutaric acid in urine.

Glutaric aciduria type 1 and type 2 were excluded by genetic analysis and other laboratory and clinical findings. One of our patients had a homozygous mutation p.Arg322Trp (c.964C > T) of SUGCT (NM_001193311) gene. To the best of our knowledge this mutation has not been reported in the literature previously. Symmetrical periventricular and deep cerebral white matter abnormalities were detected on his brain magnetic resonance imaging (MRI).

We present two patients with GA-3 and a novel mutation in the SUGCT gene. Our findings expand the spectrum of causative mutations and clinical findings in GA-3.

We present two patients with GA-3 and a novel mutation in the SUGCT gene. Our findings expand the spectrum of causative mutations and clinical findings in GA-3.

The recently described FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 13 (MTDPS13) manifests with severe encephalopathy, early-onset lactic acidosis, hypotonia, developmental delay and feeding difficulty. Less than 100 cases with FBXL4-related MTDPS13 and 47 pathogenic mutations in the FBXL4 gene have been identified thus far. Here, we describe a patient diagnosed with MTDPS13 with two novel variants of the FBXL4 gene.

A 51-day-old male was admitted with the complaint of bloody stool. His physical examination revealed facial dysmorphic features, developmental delay and truncal hypotonia with lack of head control. Laboratory investigations showed anemia, neutropenia, metabolic acidosis with hyperlactatemia, elevated fumaric acid, 2-ketoglutaric acid in urine and elevated alanine level in plasma which were consistent with mitochondrial dysfunction. Brain magnetic resonance imaging (MRI) showed large ventricles, thin corpus callosum and poor myelination. Drug-resistant epilepsy developases.

Rhabdomyolysis; can occur due to toxic, infectious, metabolic, and genetic causes. Severe rhabdomyolysis may progress to several clinical manifestations such as cardiac arrest and may pose a risk of mortality if it is not treated timely.

In this article, we presented a 26-month-old patient who was admitted with an acute rhabdomyolysis attack and a venovenous hemodiafiltration (CVVHDF) was initiated on the 5th hour of hospitalization. Creatine kinase (CK) levels of the patient continued to increase (max 943 452 IU/L) until the 5th day of treatment and hereafter began to decrease. As the common causes of rhabdomyolysis were excluded and the CK levels were the highest values reported in the literature, although, LPIN1 deficiency was the most suspected diagnosis, to facilitate the diagnostic procedures a whole-exome sequencing was performed. A homozygous [c.1696G > C p. (Asp566His)] mutation was detected on LPIN1 gene. This variant has not been described previously, however, when examined with programs such as SIFT and Mutation taster, it has been considered as pathogenic.