Pushpa Kini

Vaginal endodermal sinus tumor.

Malignant germ cell tumors are rare tumors of childhood accounting less than 3% of pediatric malignancies, and endodermal sinus tumor (EST) is the most common histological subtype. The vagina is an extremely rare site for germ cell tumors (GCT). A one-year female was admitted with history of bleeding pervagina. She had pallor and a mass was palpable anteriorly on rectal examination. Magnetic Resonance Imaging (MRI) showed a tumor mass at the junction of cervix and vagina and biopsy was suggestive of a vaginal EST. The serum alpha fetoprotein (AFP) was elevated. She underwent vaginohysterectomy. The tumor was excisedin toto and patient received four courses of cisplatin, etoposide and bleomycin. At one year of follow up, patient was symptom free and serum AFP remained at normal level. EST of the vagina is a rare, highly malignant GCT that exclusively involves children less than 3 years of age. It is both locally aggressive and capable of metastasis. Even though more conservative surgery is advised to maintain sexual and reproductive function, at times, radical surgery is mandatory depending on the infiltration of the tumor to the surrounding structures. Simple tumor excision is not sufficient, as residual cells induce recurrence and make chemotherapy ineffective. The serum AFP level is a useful marker for diagnosis and monitoring the recurrence of vaginal EST in infants.

Severe derangement of the coagulation profile following multiple bee stings in a 2-year-old boy

Occasionally, insect bites producing systemic complications are the reason for admission to paediatric intensive care. We report an interesting case of multiple bee stings in a 2-year-old boy. The boy, who was stung more than 200 times by honey bees, had a severely deranged coagulation profile with marked elevation of the hepatic enzymes. This complication has not been reported to date. Prompt intensive supportive care led to the childs total recovery.

Chromobacterium violaceum diarrhea

This is the first case ofChromobacterium violaceum diarrhoea from coastal Karmataka reported in a 2 year 10 months old girl. Stool culture yieldedChromobacterium violaceum and was sensitive to ampicillin, gentamicin, chloramphenicol, erythromycin and septran. Patient completely recovered with ampicillin and gentamicin.

Juvenile myasthenia gravis with predominant facial weakness in a 7-year-old boy

Myasthenia gravis is the most prevalent of the diseases of the neuromuscular junction in children. The most common clinical finding is ptosis, although ophthalmoplegia and facial weakness are commonly present. This paper reports juvenile myasthenia gravis in a 7-year-old boy with predominant facial muscle weakness without ophthalmoplegia and ptosis. This was detected post-operatively after adenotonsillectomy, as there was severe respiratory distress. Prompt diagnosis and treatment was life saving. A CT scan of the chest revealed thymoma. After the surgical removal of the thymoma, the child has been followed up for a year and is asymptomatic.

Clinicohematological Study of Thrombocytosis in Children

Introduction. Primary thrombocytosis is very rare in children; reactive thrombocytosis is frequently observed in children with infections, anemia, and many other causes. Aims and Objectives. To identify the etiology of thrombocytosis in children and to analyze platelet indices (MPV, PDW, and PCT) in children with thrombocytosis. Study Design. A prospective observational study. Material and Methods. A total of 1000 patients with thrombocytosis (platelet > 400 × 109/L) were studied over a period of 2 years. Platelet distribution width (PDW), mean platelet volume (MPV), and plateletcrit (PCT) were noted. Results. Of 1000 patients, 99.8% had secondary thrombocytosis and only two children had primary thrombocytosis (chronic myeloid leukemia and acute myelogenous leukemia, M7). The majority of the children belonged to the age group of 1month to 2 years (39.7%) and male to female ratio was 1.6 : 1. Infection with anemia (48.3%) was the most common cause of secondary thrombocytosis followed by iron deficiency alone (17.2%) and infection alone (16.2%). Respiratory infection (28.3%) was the predominant infectious cause observed. Thrombocytosis was commonly associated with IDA among all causes of anemia and severity of thrombocytosis increased with severity of anemia (P = 0.021). With increasing platelet count, there was a decrease in MPV (<0.001). Platelet count and mean PDW among children with infection and anemia were significantly higher than those among children with infection alone and anemia alone. None were observed to have thromboembolic manifestations. Conclusions. Primary thrombocytosis is extremely rare in children than secondary thrombocytosis. Infections in association with anemia are most commonly associated with reactive thrombocytosis and severity of thrombocytosis increases with severity of anemia.

Finlay-Marks syndrome: report of two siblings and review of literature.

Finlay–Marks syndrome (scalp–ear–nipple syndrome), is the infrequently reported association of scalp aplasia, malformed ears, and breast abnormalities varying from small nipples to complete absence of breasts. Other manifestations are variable and some of them resemble ectodermal dysplasia and include dystrophy of nails and teeth, sparse hair, decreased sweating, and cutaneous syndactyly of digits. Renal anomalies have been reported in some patients leading to hypertension and renal insufficiency. Most reported patients have been sporadic but familial occurrences following an autosomal dominant pattern of inheritance have been reported. We report on two affected siblings, of whom one died in the neonatal period due to renal failure. Two affected siblings born to non‐affected parents may suggest an autosomal recessive inheritance.

Sleep deprivation for radiological procedures in children

Sir, Radioimaging procedures in children often require sedation. Many centers, including ours, lack a dedicated team to provide sedation due to constraints of resources and time. Any innovation to decrease sedation requirement is welcome. Sleep deprivation had been tried routinely at some centers prior to radiological procedures [1]. We implemented the same and retrospectively analyzed the results and present our experience. Medication used for children (n=41) requiring sedation for noninvasive radioimaging was reviewed. These children were divided into two groups: 18 were sleep-deprived prior to procedure and 23 were not sleep-deprived. The dosages of drugs used and the adverse events documented were analyzed. We included only inpatients in this study. Sleep deprivation was defined as <5 h of night sleep. Parents were instructed to wake the child after 5 h of sleep. Usually the child would be woken up at 3 A.M. and engaged in play. The duty nurses or residents would ensure that the child was awake. In the case of infants the parents were encouraged to keep the infant awake for at least 4 h before the procedure. The two groups were comparable in terms of age, gender, imaging procedure and the duration of procedure. The most common primary sedation used was oral chloral hydrate with a mean dosage of 66.87±29.05 mg/kg for the sleep-deprived group and 61.89±38.93 mg/kg for the nonsleep-deprived group. Non-sleep-deprived patients required an additional 0.19 mg/kg of diazepam IV compared to the sleep-deprived group (P<0.05). None of the sleep-deprived patients required rescue medicines (IV promethazine, IV pentazocine), except one child who required extension of sedation beyond 3 h (for combined CT head and MRI spine). Two children with hyperactivity who had failed sedation earlier were managed with oral sedation alone after sleep deprivation. There was no serious adverse event in either of the two groups. We concluded that pre-procedural sleep deprivation decreases the need for IV sedation and lowers sedation failure rates. Even though this study included only inpatients, we think the same finding can apply to outpatients. For outpatients, parents/guardians of children are directed to wake the child after 5 h of sleep and encouraged to prevent napping during the journey to the hospital. On the negative side, sleep deprivation for a child means sleep deprivation for parents! However, the need for less sedative medication allays parental anxiety and ensures cooperation. We now recommend sleep deprivation before planned imaging procedures more often at our centre.

Factor XIII Deficiency in Siblings: Importance of Prophylactic Replacement

Factor XIII deficiency, an autosomal recessive trait, can result in serious bleeding manifestation. This case report presents two brothers with Factor XIII deficiency. Though the younger sibling had been screened and diagnosed prophylactic replacement therapy had not been initiated unlike the elder brother. He presented with intracranial haemorrhage needing surgical evacuation while the elder brother remained symptom free on regular prophylactic replacement of FFP.

Unusual presentation of cytomegaloviral infection in a 5-month-old baby: case report

Painful restricted movements of the extremities, hyperpigmentation over swollen joints, and a sclerema-like feel to the skin with increased serum triglyceride was seen in a 5-month-old baby with postnatal CMV infection. In an infant with pseudoparalysis of the limbs, the possibility of CMV infection has to be considered.

Ghosal Hemato-diaphyseal Dysplasia: A Rare Variety of Hypoplastic Anemia with Good Response to Steroid Therapy

Ghosal type of hemato-diaphyseal dysplasia (GHDD) is a rare variety of hypoplastic anemia and only limited case reports are available. A 3 year old male born to 2nd degree consanguineous parents presented with progressive pallor and bowing of lower extremities noticed since 1 year of age. He received packed cell transfusion twice in the last 1 year. There was no history of bone pain or skin bleeds. There were no affected family members. Birth history and development were normal. On examination, the height was 90 cm (15th centile for age), weight was 12.2 kg (15th centile for age) and head circumference was 47.5 cm (between mean and -2SD). Vitals were stable. Lateral bowing of legs and forearms was present along with characteristic palpable diffuse thickening of bones. There were no hand anomalies or dysmorphic features. Fundus examination and hearing was normal. Severe pallor was present. There was no icterus, lymphadenopathy, bony tenderness or skin bleeds. There was no organomegaly. Systemic examination was unremarkable. Investigations showed hemoglobin of 49 g/L, hematocrit of 16.2%, and platelet count of 22 9 10/L. The white blood cell count was 7.4 9 10/L with a differential count of 15% neutrophils, 82% lymphocytes, and 3% monocytes. The erythrocyte sedimentation rate was 80 mm 1st hour. The mean corpuscular volume (MCV) was 82.2 fl; MCH 25 pg; MCHC 30.3 g/dL and RDW was 19%. The peripheral blood smear revealed normocytic, normochromic red blood cells with reactive lymphocytes; platelet count was reduced with occasional giant forms. Reticulocyte count was 2.4%. Haemoglobin HPLC done prior to packed cell transfusion was normal. HIV ELISA and Mantoux test were negative. Serum immunoglobulin assay showed elevated levels of IgG and IgA. Radiography of long bones revealed diffuse sclerosis of the entire cortices extending up to metaphyses suggestive of meta-diaphyseal dysplasia (Fig. 1). There was no sub periosteal bone formation. Bone marrow aspiration showed dry tap with markedly diluted sinusoidal blood. Histopathological examination of the bone marrow biopsy specimen revealed bony trabeculae enclosing markedly hypo cellular marrow spaces. Genetic workup was not done. He was treated with packed cell transfusion. Oral Prednisolone (1 mg/kg/day) was started along with folic acid supplementation. There was prompt response to the steroid therapy. Repeat haemoglobin and platelet count done after 4 weeks of daily prednisolone showed improving trend (haemoglobin 116 g/L; platelet count 88 9 10/ L). Prednisolone was gradually tapered (5 mg/week) and later switched over to alternate day. The child did not require further packed cell transfusion. Currently during the follow up period of 1 year, the child is on 0.5 mg/kg prednisolone on alternate day and is maintaining his haemoglobin between 10 and 11 g/dL. No adverse effects of steroid therapy were noticed during this period. Ghosal hemato-diaphyseal dysplasia (GHHD OMIM #231095) was initially described by Ghosal [1] in five Indian patients as a rare disorder of refractory anaemia responsive to steroid therapy. The gene responsible for GHHD (TBXAS1 gene) located on chromosome 7q33–34, which encodes thromboxane-A-synthase, an enzyme which synthesizes thromboxane A2 (TA2) [2]. TA2 modulates the expression of TNFSF11 and TNFRSF11B that encode & Sandeep Kumar bksandydoc@gmail.com