Cases reported "failure to thrive"

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1/305. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.

    Two siblings manifested a neuro-haematologic syndrome characterised by low birth weight, failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia and pancytopenia without either telangiectasia or chromosomal instability. One sibling died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular and granular layers with relative preservation of purkinje cells and minimal gliosis. A surviving sibling has shown haematologic progression to a myelodysplastic disorder. There was no evidence of any chromosomal instability following exposure of fibroblasts and lymphocytes to irradiation. monosomy-7 was not present in the surviving sibling. We suspect that these two patients represent another example of the rare Hoyeraal-Hreidarsson syndrome and we are currently engaged in very close monitoring of the surviving sibling for evidence of any karyotypic abnormality. ( info)

2/305. Total parenteral nutrition and home parenteral nutrition: an effective combination to sustain malnourished children with cancer.

    A patient with Wilms' tumor and severe failure to thrive required total parenteral nutrition (TPN) for "catch-up" growth. This case underscores how TPN might be useful in the management of a child with cancer. Cancer cachexia, chemotherapy, radiation, and infections caused by immune suppression can lead to potentially serious macro- and micronutrient deficiencies. ( info)

3/305. Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient.

    A white Italian boy, aged 5 years and 8 months, is reported with failure to thrive, hypotonia, truncal ataxia, psychomotor retardation, and congenital horizontal pendular nystagmus with only waves I and II on auditory brainstem responses. Our patient's clinical picture resembles that previously reported in 10 male Oriental patients. He did not manifest spastic diplegia by the age of 2 years, as did the subjects reported in the literature, but knee-jerk hyperreflexia was evident at the most recent clinical reevaluation. Serial brain MRI studies revealed a cystic brain lesion and peritrigonal hyperintensities with no brainstem abnormalities. To date, no other child with a similar syndrome has been described either in europe or in America. The clinical features of this condition are consistent and characteristic. A definitive diagnosis is achieved by demonstrating the absence of all waves following wave I or wave II on auditory brainstem responses as early as 3 months of age. Due to the predominance of males, the occurrence in siblings, the early age at onset, the non-progressive course, and the characteristic auditory brainstem response findings, the syndrome may have a genetic origin and be attributable to a dysgenetic brainstem lesion. ( info)

4/305. flavobacterium meningosepticum sepsis in an infant with a diarrheal prodrome.

    A full term, previously normal 2 1/2-month-old black boy was transferred to our hospital from an outlying facility on hospital day 5 for failure to thrive. Three weeks before transfer, the infant was hospitalized for a diarrheal illness with fever. The baby received 3 days of ceftriaxone empirically and was discharged home after the sepsis evaluation was negative. Mild diarrhea and steady weight loss continued and the baby was readmitted. blood culture done on admission grew flavobacterium meningosepticum, an organism previously described as an uncommon cause of sepsis in neonates and immunocompromised individuals. As it is water-borne, it has been associated with infection via contaminated water. This organism is usually resistant to antibiotics commonly used for empiric treatment. To our knowledge, this is the first reported case of flavobacterium bacteremia associated with a prodromal and concurrent diarrheal illness. ( info)

5/305. Congenital hypomyelinating neuropathy: two patients with long-term follow-up.

    The authors report the long-term prospective follow-up of two unrelated females with congenital hypomyelinating neuropathy (CHN) and review previously reported cases. The authors' first patient presented with neonatal hypotonia and extremely slow nerve conduction velocities. sural nerve biopsy revealed profound hypomyelination, without inflammation or evidence of myelin breakdown. She is now 9 years of age, and her motor function has continued to improve. Follow-up nerve-conduction velocities are unchanged. The authors' second patient presented at 5 months with hypotonia. Nerve-conduction velocities were extremely slow, and sural nerve biopsy revealed severe hypomyelination, with no inflammation or evidence of myelin breakdown. She is now 5 years of age and has also demonstrated improved motor function. Repeated nerve-conduction velocities are unchanged. Both patients have normal cognitive development. Molecular genetic analysis in Patient 2 disclosed a point mutation in the myelin protein zero gene; this same point mutation has been reported in three other patients diagnosed with Dejerine-Sottas syndrome (DSS) but has never been reported in a patient with CHN. Although CHN is a distinct clinical entity, it may share similar genetic features with DSS. ( info)

6/305. Multiple neonatal endocrinopathies in McCune-Albright syndrome.

    Two cases of McCune-Albright syndrome (MAS) are reported who presented in the neonatal period with profound failure to thrive, cardio-respiratory distress, precocious puberty and Cushing's syndrome for which both underwent bilateral adrenalectomy. Both girls had also bilateral nephrocalcinosis; in one case that may have been attributed to Cushing's syndrome, but in the second case the cause remained obscure with no obvious abnormality of calcium metabolism. The first girl had hydrocephalus which is uncommon in this condition and the second girl still failed to thrive at the age of 6 years, despite adequate caloric intake and hormonal manipulation. A constellation of other abnormal features are described. These cases illustrate the complexity of MAS which can become a life-threatening or a debilitating disorder. ( info)

7/305. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.

    We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skeletal maturation and a clinical picture resembling MSS. This raises the possibility that the cause of MSS involves the q3 region of chromosome 2. Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We suggest that karyotyping be undertaken with particular attention to the 2q3 region in patients with suspected MSS. It also would be prudent to assess bone age in all children with trisomy 2q. ( info)

8/305. Marshall-Smith syndrome: case report of a newborn male and review of the literature.

    Marshall-Smith syndrome is a rare congenital condition, characterized by advanced bone age, facial anomalies and relative failure to thrive. We report a newborn male with Marshall-Smith syndrome and summarize 21 previously reported cases. We report cerebellar hypoplasia in our patient, which has not been previously reported in subjects with this rare syndrome. This patient's findings broaden the phenotypic spectrum seen in Marshall-Smith syndrome. ( info)

9/305. Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.

    A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis during a febrile episode at the age of 16 months. A brain scan was initially normal and showed hemilateral focal edema and gliosis at later stages. 3-Methylcrotonyl-CoA carboxylase deficiency was suggested by elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, and confirmed by enzyme assays. The patient was treated with protein restriction and carnitine and remained stable during the following 5 years. Hemiparesis and some developmental delay persisted. In acute focal brain disease, metabolic disorders must be considered. 3-Methylcrotonyl-CoA carboxylase deficiency adds to the list of possible causes of "metabolic stroke". ( info)

10/305. Common deletion of mitochondrial dna in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers.

    A girl aged 4 years and 10 months presented with failure to thrive, ptosis, ragged-red fibers and the common 4.9 kb mitochondrial dna deletion. She had elevated serum lactic and pyruvic acids. The onset was at around 18 months. There were no signs of retinitis, and abnormal renal, liver or pancreatic functions. She later developed mild ophthalmoplegia at 6 years of age. Additional features of chronic progressive external ophthalmoplegia (CPEO) or kearns-sayre syndrome (KSS) are the conditions that should be watched and investigated in the long-term follow-up of this girl. ( info)
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