Sickle cell disease (SCD) is a hereditary blood disorder that can increase complications during pregnancy and in turn negatively influence pregnancy outcomes. In addition to patients with SCD are at a high risk of been infected with hepatitis C infection. Furthermore in this study, we reported the clinical status of a pregnant woman with SCD who had hepatitis C virus infection.

Branchio-oculo-facial syndrome (BOFS), a rare, multiple-malformation congenital disorder, is characterized by facial anomalies, including associated cutaneous and ocular abnormalities. We report a new case of BOFS in an 11-year-old male child with bilateral cervical erythematous scaly linear plaque associated with scar formation and erosion. Although BOFS is very rare, physicians, especially dermatologists, should be aware of the cutaneous and histopathological features of BOFS due to impacts of the associated anomalies.

Primordial dwarfism (PD) is a group of rare genetically heterogeneous disorders consisted of disorders with intrauterine growth retardation continued through the life. SOFT syndrome with characteristics of short stature, onychodysplasia, facial dysmorphism, and hypotrichosis has been presented as a subtype of PD. Only 20 cases of SOFT syndrome have been reported in world to date, but none of them were not in Iran. Our case was 6.5-year-old girl with a complaint of growth retardation including height of 97 cm (Z = −4.6 standard deviation [SD]) and weight of 14 kg (Z = −4 SD) referred to growth clinic. She had a prominent forehead, triangular face, short limbs, malformed nails, and crowded teeth and her psychomotor function was normal. Laboratory and karyotype tests were normal while she was homozygous for c.G491A mutation of POC1A gene thus SOFT syndrome diagnosis was confirmed for her and recombinant growth hormone therapy was discontinued.

Carnitine membrane transporter deficiency or primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation, in which the transport of carnitine into cells is impaired. Carnitine plays an important role in transporting fatty acids into the mitochondria and carnitine deficiency block oxidation of long-chain fatty acids in the mitochondria that leads to heart and hepatic disease, myopathy, nonketotic hypoglycemia, and neurological complications. PCD has a wide range of symptoms and can reveal itself as symptomatic cardiomyopathy or even asymptomatic. In this study, we reported twin brothers with PCD. One of them had symptoms of disease and cardiomyopathy and was under treatment with carnitine. Another twin was asymptomatic and was diagnosed during follow-up period of his brother.

Patient with refractory seizure may undergo awake craniotomy when the area to be resected is immediately adjacent to eloquent cortex. An awake craniotomy in a 30-year-old man was conducted using a scalp block, dexmedetomidine, and remifentanil infusion without any airway device throughout the procedure. Dexmedetomidine administered at a loading dose of 1 μg/kg and maintenance dose of 0.2–0.7 μg/kg/h. Remifentanil dose was 0.02 μg/kg/min. The patient remained comfortable and hemodynamically stable throughout the procedure. Cortical electrical stimulation revealed motor cortex overlapped with seizure focus. So that surgical procedure was limited to subpial resection of the epileptic focus. Dexmedetomidine with concurrent scalp block appears to be an useful sedation for awake craniotomy when sophisticated neurological test is required.

Langerhans cell histiocytosis (LCH) is characterized by idiopathic monoclonal infiltration of Langerhans cells in different organs such as the skeleton, skin, pituitary gland, liver, spleen, lungs, and the hematopoietic system. Skin lesions are common in LCH and affect about 40% of cases. It is reported that skin lesions are usually the first manifestation of LCH in 80% of patients. Usually, cutaneous presentations of LCH in adults are generalized or seborrhea-like lesions and it is often the first manifestation of disease. Here, we describe a 45-year old female who was known case of hypothyroidism, systemic lupus erythematosus, and diabetes insipidus. In our patient, cutaneous involvement was unusual. It was single and presented in unusual site (ankle) and before developing such lesion, she had diabetes insipidus for several years due to the involvement of pituitary gland.

Thyroid follicular cancers are one of the thyroid gland cancers. This cancer can lead to metastases to various areas of the body. We describe a patient with thyroid follicular carcinoma who after total thyroidectomy had severe hypercalcemia, increased creatinine, and thyrotoxicosis due to extensive bone metastases. The patient was a 52-year-old man who had femoral neck fracture as the first manifestation of thyroid cancer. He was hospitalized for some time after orthopedic measures because of thyrotoxicosis and deep-venous thrombosis. The study found that the origin of metastatic lesions was thyroid follicular cancer, leading to extensive bone metastases. After administering of methimazole and control of thyrotoxicosis, he was subjected to total thyroidectomy. Methimazole was discontinued immediately after surgery. One month after surgery, ultrasound confirmed that the thyroid was completely removed. However, T3 (triiodothyronine) remained high; besides the patient had hypercalcemia and increased creatinine due to dehydration. The patient was retreated with methimazole due to thyrotoxicosis, and for hypercalcemia fluid therapy, intravenous zoledronic acid was prescribed. These measures led to the normalization of creatinine and glomerular filtration rate. The purpose of introducing this case report was that these symptoms are a rare manifestation of functional metastases of follicular thyroid carcinoma after total thyroidectomy. Bone metastases of follicular thyroid carcinoma may be functional and are lytic that can lead to hypercalcemia and its complications.

Subcorneal pustular dermatosis (SPD) or Sneddon-Wilkinson disease is a rare, benign, chronic, sterile pustular eruption which is associated with various systemic diseases including immunoglobinopathies, neoplasms, and autoimmune disorders. This paper reports a case of SPD in a patient with diffuse scleroderma in a 37-year-old woman. The hypothesis that immune dysregulation may play a role in the pathogenesis of SPD was supposed by the coexistence of diffuse scleroderma and SPD in our patient.

Heterotopic bone formation is a rare event in gastrointestinal lesions, especially in the pediatric population. Osseous metaplasia is exceedingly rare in colonic polyps. We present a case of rectal juvenile polyp with stromal osseous metaplasia in a 10-year-old male child. This histologic finding is very rare in children with colorectal polyps.

In this paper, we will present a case of a 63-year-old female with bifrontal epidermoid tumor who has gone under bilateral craniotomy. In a case report study, a 63-year-old female with a chief complaint of progressive headache that has been admitted to Department of Neurosurgery was studied. Magnetic resonance imaging was performed for better evaluation. After detection of bifrontal epidermoid cyst, the patient underwent surgery, and following the surgery, a cut of the tumor has been excised, sent for pathology sampling and reviewed for detection of cyst. Microscopic review of the resected part reported normal brain tissue along with sections containing parts of cyst wall covered by squamous epithelium and huge amount of irregularly stratified keratin within its lumen, which clearly emphasizes on diagnosis of a typical epidermoid tumor. Bifrontal epidermoid cyst is rare, and according to our study, the clinical symptoms and patients imaging were consistent with other studies.

Neu–Laxova syndrome (NLS) is an autosomal recessive disorder characterized by central nervous system anomalies, facial dysmorphic features, anomalies of limb and genitalia, intrauterine growth retardation, skin disorders, and other congenital abnormalities. In this article, we present a newborn infant who was born with facial dysmorphic features, flat nose, ichthyosis, rocker bottom feet, and fixed flexion contractures. We believe that these clinical findings in this patient are consistent with features of NLS.

Cellular therapy is being actively pursued as a therapeutic modality in many of the neurological diseases. A variety of stem cells from diverse sources have been studied in detail and have been shown to exhibit angiogenetic and immunomodulatory properties in addition to other neuroprotective effects. Published clinical data have shown bone marrow mononuclear cell (BMMNC) injection in neurological disorders is safe and possesses regenerative potential. We illustrate a case of 27-year-old male with traumatic brachial plexus injury, administered with autologous BMMNCs intrathecally and intramuscularly, followed by multidisciplinary rehabilitation. At the follow-up assessment of 3 and 7 months after first cell transplantation, improvements were recorded in muscle strength and movements. Electromyography (EMG) performed after the intervention showed a response in biceps and deltoid muscles suggesting the process of reinnervation at the site of injury. In view of the improvements observed after the treatment, the patient underwent second cell transplantation 8 months after the first transplantation. Muscle wasting had completely stopped with an increase in the muscle girth. No adverse effects were noted. Improvements were maintained for 4 years. A comprehensive randomized study for this type of injury is needed to establish the therapeutic benefits of cellular therapy.

Primary muscular hydatidosis is a very rare condition with an incidence of 1%–4% in endemic regions. This case report describes an unusual location of hydatid cyst in the sartorius muscle and the application of imaging in its preoperative diagnosis, choosing a treatment strategy, and monitoring.

Thrombotic thrombocytopenic purpura (TTP) secondary to diabetic ketoacidosis has been rarely reported and is considered as a rare complication. If left untreated, this condition could be life threatening with considerable morbidity and mortality. Herein, we report a 6-year-old girl with reduced consciousness and respiratory distress with a history of polydipsia and polyuria in the 2 weeks before hospitalization. The patient was initially diagnosed as diabetic ketoacidosis based on clinical and laboratory findings and treated accordingly. After treatment and during hospitalization although she had gained relative consciousness, she experienced seizure and reduced consciousness again. Considering laboratory and clinical findings and the patient's underlying conditions (thrombocytopenia, renal failure, and high lactate dehydrogenase), TTP was suspected although ADAMTS13 test could not be done. Treatment with plasmapheresis was initiated, and after 48 h, the patient was conscious, and laboratory indices became normal within a few days. The patient was discharged after full recovery. TTP should be considered as a rare complication of diabetic ketoacidosis in patients with thrombocytopenia, renal failure, and reduced consciousness and should be immediately treated.

Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include neurological symptoms and mental retardation. Only a few patients presenting with this disease have been described, and the clinical phenotype remains variable and unclear. We present a case, who was admitted to the hospital at the age of 4 months for recurrent seizures. Two months later, she was admitted again with status epilepticus. Laboratory data showed increased level of tyrosine in the blood. She was treated with a diet low in tyrosine and phenylalanine and anamix formula that leading to catch-up growth and improvement of her symptoms. Plasma tyrosine level dropped to normal values. In any child who presents with the neurologic symptom, some rare diagnosis like tyrosinemia type III should be considered.